- Yale Dermatology New HavenDoctors Building2 Church Street South, Ste 305New Haven, CT 06519
Keith Choate, MD, PhD
Biography
Keith Choate, MD, PhD, is a professor of dermatology, genetics and pathology at Yale School of Medicine and a medical dermatologist who treats patients with a variety of skin conditions, including skin cancer, severe acne, psoriasis, and other conditions upon referral by a dermatologist. His expertise in genetic skin disorders leads to referrals from across the country and around the world. Regarding the complex cases he sees, Dr. Choate says, “There's nothing better than solving a medical mystery, and it’s enormously gratifying to see patients get better.”
He reports that some patients have seen many other doctors before coming to Yale Medicine Dermatology, and that they are surprised to discover how things are done differently at Yale Medicine. As a physician-scientist, Dr. Choate and others in the department bring insights from scientific investigation and clinical trials to patient care. “At the end of the day, there's always an answer to complex skin problems if we are willing to work together toward finding a solution,” says Dr. Choate.
Dr. Choate is co-chief of dermatology at the Saint Raphael campus, director of research of the Yale Medicine Department of Dermatology, and an associate director of the Yale Medical Scientist Program. He reports that “having the opportunity to train the next generation of clinicians and physician-scientists who will shape medicine is an inspiring part of what I do.”
In his own research, Dr. Choate employs genetic tool and biologic investigation to find solutions for other genetic disorders such as ichthyosis, palmoplantar keratoderma and disorders appearing in patches or stripes on the skin. These include mosaic manifestations of acne, lichen planus, lupus and psoriasis.
To that end, Dr. Choate has recently published research on a group of severe, genetic skin conditions called ichthyosis, which cause dry, scaly or thickened skin. They affect about 200,000 people and can be disfiguring. In his new research, he and colleagues found a commonly used acne medication called isotretinoin (Accutane), counteracts the effects of the genetic mutations the disorder causes. “In two patients who’ve utilized it, the medication has cured the disease,” Dr. Choate says.
“Yale Medicine’s approach to patient care, disease-centered research, and education gives me a unique opportunity to make a difference in patients’ lives. This is why I come to work every day,” Dr. Choate says.
Titles
- Aaron B. and Marguerite Lerner Professor and Chair of Dermatology. Professor of Genetics and Pathology. Associate Dean for Physician-Scientist Development
Education & Training
- Postdoctoral FellowYale University School of Medicine (2008)
- ResidentYale- New Haven Hospital (2008)
- InternYale-New Haven Hospital (2005)
- MDYale University School of Medicine (2004)
- PhDYale University, Cell Biology (2001)
- MPhilYale University, Cell Biology (2000)
- BSStanford University, Biological Sciences (1995)
Additional Information
- ICC: Interurban Clinical Club (2018)
- ADA: American Dermatological Association (2017)
- ASCI: American Society for Clinical Investigation (2016)
- Young Investigator Award: American Academy of Dermatology (2011)
- Alpha Omega Alpha: Alpha Omega Alpha (2004)
- AB of Dermatology, Dermatology (2008)
- Associate Director Yale Medical Scientist Training Program (2015 - Present): Director
- Board of Directors, Foundation for Ichthyosis and Related Skin Types (2015 - 2017): Member
- Medical and Scientific Advisory Board, Foundation for Ichthyosis and Related Skin Types (2010 - 2017): Member
- Curtis K, Echeandia-Francis C, Falotico J, Luo A, Qiu Y, Grover C, Piraccini B, Choate K, Lipner S. Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database. Journal Of The American Academy Of Dermatology 2024 PMID: 39278313, DOI: 10.1016/j.jaad.2024.08.063.
- shah K, Goldust M, Ellis K, Ugwu N, Hu R, Zhou J, Choate K. LB974 Mutation spectrum of cutaneous vascular anomalies. Journal Of Investigative Dermatology 2024, 144: s171. DOI: 10.1016/j.jid.2024.06.1150.
- Hunt M, Wang N, Pupinyo N, Curman P, Torres M, Jebril W, Chatzinikolaou M, Lorent J, Silberberg G, Bansal R, Burner T, Zhou J, Kimeswenger S, Hoetzenecker W, Choate K, Bachar-Wikstrom E, Wikstrom J. Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment. EMBO Molecular Medicine 2024, 16: 1986-2001. PMID: 39060641, PMCID: PMC11392931, DOI: 10.1038/s44321-024-00104-3.
- Velasco R, Shao C, Cutler B, Strunck J, Kent G, Cassidy P, Choate K, Greiling T. Guselkumab for Pityriasis Rubra Pilaris and Dysregulation of IL-23/IL-17 and NFkB Signaling. JAMA Dermatology 2024, 160: 641-645. PMID: 38598229, PMCID: PMC11007649, DOI: 10.1001/jamadermatol.2024.0257.
- Singh K, Breidbart R, Jaiswal A, Damsky W, Choate K, Vesely M. Intravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab. JAAD Case Reports 2024, 49: 102-105. PMID: 38952857, PMCID: PMC11214983, DOI: 10.1016/j.jdcr.2024.05.002.
- Mortlock R, Choate K. How Efforts to Understand Somatic Mosaicism Will Impact Dermatology. Journal Of Investigative Dermatology 2024, 144: 453-455. PMID: 38395493, PMCID: PMC11009867, DOI: 10.1016/j.jid.2023.10.007.
- Haller C, Leszczynska M, Brichta L, Maier E, Riddington I, Choate K, Levy M. Topical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning‐Feuerstein‐Mims syndrome. Pediatric Dermatology 2024, 41: 523-525. PMID: 38273779, PMCID: PMC11096062, DOI: 10.1111/pde.15523.
- Echeandia‐Francis C, Sun Q, Asch S, Bayart C, Benjamin L, Cipriano S, Craiglow B, Dyer J, Levy M, Lilly E, Newell B, Liang J, Gan G, Deng Y, Paller A, Choate K. In‐person validation of the Ichthyosis Scoring System. Pediatric Dermatology 2024, 41: 247-252. PMID: 38234066, DOI: 10.1111/pde.15508.
- Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross C, Brambilla D, Witzigmann D, Kulkarni J, Cullis P, Hedtrich S. Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin. ACS Nano 2023, 17: 22046-22059. PMID: 37918441, PMCID: PMC10655174, DOI: 10.1021/acsnano.3c08644.
- Chen G, Goldust M, Choate K, Cohen J. Associations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program. Journal Of The American Academy Of Dermatology 2023, 90: 439-440. PMID: 37863200, DOI: 10.1016/j.jaad.2023.10.025.
- Seli D, Ellis K, Goldust M, Shah K, Hu R, Zhou J, McNiff J, Choate K. Association of Somatic ATP2A2 Damaging Variants With Grover Disease. JAMA Dermatology 2023, 159: 745-749. PMID: 37195706, PMCID: PMC10193258, DOI: 10.1001/jamadermatol.2023.1139.
- O’Connell K, Schaefer M, Atzmony L, Vleugels R, Choate K, LaChance A, Min M. Clinical features in adults with acquired cutis laxa: a retrospective review. British Journal Of Dermatology 2023, 188: 800-816. PMID: 36849736, PMCID: PMC10230959, DOI: 10.1093/bjd/ljad043.
- Braun M, Choate K, Mathes E. Nagashima‐type palmoplantar keratoderma: Case series and two novel variants. Pediatric Dermatology 2023, 40: 882-885. PMID: 36721328, DOI: 10.1111/pde.15265.
- Roy S, Sarhan J, Liu X, Murphy M, Bunick C, Choate K, Damsky W, McNiff J. Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings. British Journal Of Dermatology 2022, 188: 574-576. PMID: 36763786, DOI: 10.1093/bjd/ljac146.
- Sun Q, Marukian N, Cheraghlou S, Paller A, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu R, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams C, Loring E, Craiglow B, Milstone L, Lifton R, Boyden L, Choate K. 502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds. Journal Of Investigative Dermatology 2022, 142: s85. DOI: 10.1016/j.jid.2022.05.511.
- Atzmony L, Ugwu N, Hamilton C, Paller A, Zech L, Antaya R, Choate K. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology 2022, 39: 903-907. PMID: 35853659, PMCID: PMC9712156, DOI: 10.1111/pde.15094.
- Hong E, Hu R, Posligua A, Choate K, Durkin J. Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review. JAAD Case Reports 2022, 31: 93-96. PMID: 36545487, PMCID: PMC9762068, DOI: 10.1016/j.jdcr.2022.05.030.
- Sun Q, Paller A, Choate K. 25905 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrument. Journal Of The American Academy Of Dermatology 2021, 85: ab12. DOI: 10.1016/j.jaad.2021.06.073.
- Ugwu N, Atzmony L, Ellis K, Panse G, Jain D, Ko C, Nassiri N, Choate K. LB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic intervention. Journal Of Investigative Dermatology 2021, 141: b8. DOI: 10.1016/j.jid.2021.07.021.
- Lefferdink R, Chima M, Ibler E, Pavel A, Kim H, Wu B, Abu-Zayed H, Rangel S, Wu J, Zumpf K, Jackson K, Choate K, Guttman-Yassky E, Paller A. 428 Randomized, double-blind, placebo-controlled study of efficacy and safety of secukinumab to treat adults with ichthyoses. Journal Of Investigative Dermatology 2021, 141: s74. DOI: 10.1016/j.jid.2021.02.451.
- Sun Q, Paller A, Choate K. 422 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrument. Journal Of Investigative Dermatology 2021, 141: s73. DOI: 10.1016/j.jid.2021.02.445.
- Vahidnezhad H, Youssefian L, Touati A, Saeidian A, Harvey N, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Boyden L, Choate K, McGrath J, Uitto J. 186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Journal Of Investigative Dermatology 2021, 141: s33. DOI: 10.1016/j.jid.2021.02.206.
- Boyden L, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller A, Lifton R, Choate K. 180 ASPRV1 mutations cause dominantly inherited ichthyosis. Journal Of Investigative Dermatology 2021, 141: s32. DOI: 10.1016/j.jid.2021.02.200.
- Boyden L, Atzmony L, Zhou J, Lim Y, Hu R, Lifton R, Choate K. 294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness. Journal Of Investigative Dermatology 2020, 140: s36. DOI: 10.1016/j.jid.2020.03.300.
- Azmony L, Sun Q, Hamilton C, Lim Y, Leventhal J, Paller A, Choate K. 868 Pathogenesis based therapy improves cutaneous abnormalities in porokeratosis- A pilot study. Journal Of Investigative Dermatology 2020, 140: s113. DOI: 10.1016/j.jid.2020.03.884.
- Johnson K, Hovnanian A, Teng J, Paller A, Choate K, Elias P, Laura Z, Nguyen T, Smith D, Hsu A, Alani L, Lai C, Hsu L. 579 Rationale and design for the Kallikrein Inhibitor in Netherton Syndrome (KINS) pivotal clinical trial. Journal Of Investigative Dermatology 2020, 140: s79. DOI: 10.1016/j.jid.2020.03.589.
- Sun Q, Ren I, Zaki T, Maciejewski K, Choate K. 432 Ichthyosis affects mental health in adults and children: A cross-sectional study. Journal Of Investigative Dermatology 2020, 140: s57. DOI: 10.1016/j.jid.2020.03.440.
- Atzmony L, Khan H, Lim Y, Paller A, Levinsohn J, Holland K, Mirza F, Yin E, Ko C, Leventhal J, Choate K. 390 Second-hit, post-zygotic PMVKand MVD mutations cause linear porokeratosis. Journal Of Investigative Dermatology 2019, 139: s67. DOI: 10.1016/j.jid.2019.03.466.
- Olamiju B, Ren I, Li L, Deng Y, Marukian N, Zhou J, Hu R, Zaki T, Craiglow B, Choate K. 379 Quality of life in children with ichthyosis. Journal Of Investigative Dermatology 2018, 138: s64. DOI: 10.1016/j.jid.2018.03.385.
- Gupta K, Chen D, Levinsohn J, Choate K, Taketo M, Myung P. 1338 Dermal Wnt/β-catenin activation tunably controls hair follicle initiation. Journal Of Investigative Dermatology 2018, 138: s227. DOI: 10.1016/j.jid.2018.03.1355.
- Crumrine D, Khnykin D, Krieg P, Man M, Celli A, Mauro T, Menon G, Mauldin E, Miner J, Brash A, Sprecher E, Radner F, Choate K, Roop D, Uchida Y, Gruber R, Schmuth M, Elias P. 655 Origin and functions of the corneocyte lipid envelope. Journal Of Investigative Dermatology 2018, 138: s111. DOI: 10.1016/j.jid.2018.03.664.
- Boyden L, Vincent N, Zhou J, Hu R, Paller A, Lifton R, Baserga S, Choate K. 799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy. Journal Of Investigative Dermatology 2018, 138: s136. DOI: 10.1016/j.jid.2018.03.809.
- Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal Of Human Genetics 2017, 100: 978-984. PMID: 28575652, PMCID: PMC5473720, DOI: 10.1016/j.ajhg.2017.05.003.
- Khan H, Boyden L, Tomita S, Choate K. 463 GJA1 mutations causing erythrokeratodermia variabilis et progressiva display increased connexin hemichannel activity. Journal Of Investigative Dermatology 2017, 137: s80. DOI: 10.1016/j.jid.2017.02.482.
- Levinsohn J, Sugarman J, McNiff J, Freiden I, Antaya R, Choate K. 514 Somatic mutations in nevus comedonicus identify nek9 as a determinant of follicular keratinocyte cell fate. Journal Of Investigative Dermatology 2017, 137: s88. DOI: 10.1016/j.jid.2017.02.534.
- Mauldin E, Cassal M, Jeong S, Vavrova K, Uchida Y, Park K, Craiglow B, Choate K, Shin K, Lee Y, Khnykin D, Grove G, Elias P. 458 Cellular and metabolic basis for the ichthyotic phenotype in ichthyin deficiency. Journal Of Investigative Dermatology 2017, 137: s79. DOI: 10.1016/j.jid.2017.02.477.
- Theodosakis N, Levinsohn J, Lim Y, Paller A, Sugarman J, Choate K. 497 Genetic investigation of linear inflammatory disorders. Journal Of Investigative Dermatology 2017, 137: s85. DOI: 10.1016/j.jid.2017.02.517.
- Marukian N, Deng Y, Gan G, Ren I, Thermidor W, Craiglow B, Milstone L, Choate K. 291 Establishing and validating an ichthyosis severity index. Journal Of Investigative Dermatology 2017, 137: s50. DOI: 10.1016/j.jid.2017.02.307.
- Lim Y, Bacchiocchi A, Qiu J, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate K. 513 GNA14 somatic mutation causes congenital and sporadic vascular tumors by MAPK activation. Journal Of Investigative Dermatology 2017, 137: s88. DOI: 10.1016/j.jid.2017.02.533.
- Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, Genomics Y, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. American Journal Of Human Genetics 2016, 99: 443-450. PMID: 27476652, PMCID: PMC4974082, DOI: 10.1016/j.ajhg.2016.06.010.
- Lim Y, Saraceni C, Choate K. 392 A novel polyalanine frameshift mutation in KRT10 causes ichthyosis with confetti. Journal Of Investigative Dermatology 2016, 136: s69. DOI: 10.1016/j.jid.2016.02.426.
- Paller A, Suarez-Farinas M, Renert-Yuval Y, Oliva M, Huynh T, Esaki H, Suprun M, Friedland R, Wanderman R, Krueger J, Choate K, Guttman-Yassky E. 395 Disease severity and cutaneous inflammation in ichthyosis are linked to Th17 pathway activation. Journal Of Investigative Dermatology 2016, 136: s70. DOI: 10.1016/j.jid.2016.02.429.
- Boyden L, Kam C, Hernández-Martín A, Zhou J, Craiglow B, Milstone L, Hu R, Elias P, Green K, Choate K. 383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin. Journal Of Investigative Dermatology 2016, 136: s68. DOI: 10.1016/j.jid.2016.02.416.
- Marukian N, Zhou J, Hu R, Theos A, Kaymakcalan H, Bayliss S, Paller A, Boyden L, Choate K. 366 Bathing suit ichthyosis: Novel mutations and clues to pathogenesis. Journal Of Investigative Dermatology 2016, 136: s65. DOI: 10.1016/j.jid.2016.02.399.
- Levinsohn JL, Sugarman JL, Genomics Y, McNiff JM, Antaya RJ, Choate KA. Somatic Mutations in NEK9 Cause Nevus Comedonicus. American Journal Of Human Genetics 2016, 98: 1030-1037. PMID: 27153399, PMCID: PMC4863661, DOI: 10.1016/j.ajhg.2016.03.019.
- Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. Journal Of Cutaneous Pathology 2015, 42: 853-857. PMID: 26154588, PMCID: PMC4843784, DOI: 10.1111/cup.12551.
- Levinsohn JL, Sugarman JL, Bilguvar K, McNiff JM, Choate K, Genomics T. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. Journal Of Investigative Dermatology 2015, 135: 2536-2538. PMID: 25950823, PMCID: PMC4567902, DOI: 10.1038/jid.2015.180.
- Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. Journal Of Clinical Investigation 2015, 125: 1703-1707. PMID: 25774499, PMCID: PMC4396494, DOI: 10.1172/jci64415.
- Lim YH, Douglas SR, Ko CJ, Antaya RJ, McNiff JM, Zhou J, , Choate K, Narayan D. Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. Journal Of Investigative Dermatology 2015, 135: 1698-1700. PMID: 25695684, PMCID: PMC4430357, DOI: 10.1038/jid.2015.55.
- Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, , Paller A, Choate K. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Journal Of Investigative Dermatology 2014, 135: 1540-1547. PMID: 25398053, PMCID: PMC4430428, DOI: 10.1038/jid.2014.485.
- Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi. Journal Of Investigative Dermatology 2013, 134: 1149-1152. PMID: 24129065, PMCID: PMC3961553, DOI: 10.1038/jid.2013.430.
- Lim YH, Ovejero D, Sugarman JS, DeKlotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics 2013, 23: 397-407. PMID: 24006476, PMCID: PMC3869357, DOI: 10.1093/hmg/ddt429.
- Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus. Journal Of Investigative Dermatology 2012, 133: 827-830. PMID: 23096712, PMCID: PMC3556376, DOI: 10.1038/jid.2012.379.
- Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred. Pediatric Dermatology 2012, 29: 725-731. PMID: 22515571, PMCID: PMC3709244, DOI: 10.1111/j.1525-1470.2012.01757.x.
- Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.
- Wilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.
- Choate K, Lu Y, Lifton R. Claudins Mediate Specific Paracellular Fluxes in Vivo. 2001 DOI: 10.1201/9781420038538.ch22.
- Smith A, Skaug J, Choate K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Lifton R, Scherer S, Karet F. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics 2000, 26: 71-75. PMID: 10973252, DOI: 10.1038/79208.
- Simon D, Lu Y, Choate K, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton R. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption. Science 1999, 285: 103-106. PMID: 10390358, DOI: 10.1126/science.285.5424.103.
- Deng H, Choate K, Lin Q, Khavari P. High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human Keratinocytes. BioTechniques 1998, 25: 274-280. PMID: 9714888, DOI: 10.2144/98252gt02.
- Choate K, Khavari P, Williams M. Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis. Journal Of Investigative Dermatology 1998, 110: 8-12. PMID: 9424079, DOI: 10.1046/j.1523-1747.1998.00070.x.
- Choate K, Khavari P. Direct Cutaneous Gene Delivery in a Human Genetic Skin Disease. Human Gene Therapy 1997, 8: 1659-1665. PMID: 9322868, DOI: 10.1089/hum.1997.8.14-1659.
- Freiberg R, Choate K, Deng H, Alperin E, Shapiro L, Khavari P. A Model of Corrective Gene Transfer in X-Linked Ichthyosis. Human Molecular Genetics 1997, 6: 927-933. PMID: 9175741, DOI: 10.1093/hmg/6.6.927.
- Choate K, Khavari P. Sustainability of Keratinocyte Gene Transfer and Cell Survival In Vivo. Human Gene Therapy 1997, 8: 895-901. PMID: 9195211, DOI: 10.1089/hum.1997.8.8-895.
- Freiberg R, Spencer D, Choate K, Duh H, Schreiber S, Crabtree G, Khavari P. Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts. Journal Of Investigative Dermatology 1997, 108: 215-219. PMID: 9008237, DOI: 10.1111/1523-1747.ep12334273.
- Freiberg R, Spencer D, Choate K, Peng P, Schreiber S, Crabtree G, Khavari P. Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*. Journal Of Biological Chemistry 1996, 271: 31666-31669. PMID: 8940187, DOI: 10.1074/jbc.271.49.31666.
- Choate K, Medalie D, Morgan J, Khavari P. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nature Medicine 1996, 2: 1263-1267. PMID: 8898758, DOI: 10.1038/nm1196-1263.
- Yale Dermatology New HavenDoctors Building2 Church Street South, Ste 305New Haven, CT 06519
Biography
Keith Choate, MD, PhD, is a professor of dermatology, genetics and pathology at Yale School of Medicine and a medical dermatologist who treats patients with a variety of skin conditions, including skin cancer, severe acne, psoriasis, and other conditions upon referral by a dermatologist. His expertise in genetic skin disorders leads to referrals from across the country and around the world. Regarding the complex cases he sees, Dr. Choate says, “There's nothing better than solving a medical mystery, and it’s enormously gratifying to see patients get better.”
He reports that some patients have seen many other doctors before coming to Yale Medicine Dermatology, and that they are surprised to discover how things are done differently at Yale Medicine. As a physician-scientist, Dr. Choate and others in the department bring insights from scientific investigation and clinical trials to patient care. “At the end of the day, there's always an answer to complex skin problems if we are willing to work together toward finding a solution,” says Dr. Choate.
Dr. Choate is co-chief of dermatology at the Saint Raphael campus, director of research of the Yale Medicine Department of Dermatology, and an associate director of the Yale Medical Scientist Program. He reports that “having the opportunity to train the next generation of clinicians and physician-scientists who will shape medicine is an inspiring part of what I do.”
In his own research, Dr. Choate employs genetic tool and biologic investigation to find solutions for other genetic disorders such as ichthyosis, palmoplantar keratoderma and disorders appearing in patches or stripes on the skin. These include mosaic manifestations of acne, lichen planus, lupus and psoriasis.
To that end, Dr. Choate has recently published research on a group of severe, genetic skin conditions called ichthyosis, which cause dry, scaly or thickened skin. They affect about 200,000 people and can be disfiguring. In his new research, he and colleagues found a commonly used acne medication called isotretinoin (Accutane), counteracts the effects of the genetic mutations the disorder causes. “In two patients who’ve utilized it, the medication has cured the disease,” Dr. Choate says.
“Yale Medicine’s approach to patient care, disease-centered research, and education gives me a unique opportunity to make a difference in patients’ lives. This is why I come to work every day,” Dr. Choate says.
Titles
- Aaron B. and Marguerite Lerner Professor and Chair of Dermatology. Professor of Genetics and Pathology. Associate Dean for Physician-Scientist Development
Education & Training
- Postdoctoral FellowYale University School of Medicine (2008)
- ResidentYale- New Haven Hospital (2008)
- InternYale-New Haven Hospital (2005)
- MDYale University School of Medicine (2004)
- PhDYale University, Cell Biology (2001)
- MPhilYale University, Cell Biology (2000)
- BSStanford University, Biological Sciences (1995)
Additional Information
- ICC: Interurban Clinical Club (2018)
- ADA: American Dermatological Association (2017)
- ASCI: American Society for Clinical Investigation (2016)
- Young Investigator Award: American Academy of Dermatology (2011)
- Alpha Omega Alpha: Alpha Omega Alpha (2004)
- AB of Dermatology, Dermatology (2008)
- Associate Director Yale Medical Scientist Training Program (2015 - Present): Director
- Board of Directors, Foundation for Ichthyosis and Related Skin Types (2015 - 2017): Member
- Medical and Scientific Advisory Board, Foundation for Ichthyosis and Related Skin Types (2010 - 2017): Member
- Curtis K, Echeandia-Francis C, Falotico J, Luo A, Qiu Y, Grover C, Piraccini B, Choate K, Lipner S. Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database. Journal Of The American Academy Of Dermatology 2024 PMID: 39278313, DOI: 10.1016/j.jaad.2024.08.063.
- shah K, Goldust M, Ellis K, Ugwu N, Hu R, Zhou J, Choate K. LB974 Mutation spectrum of cutaneous vascular anomalies. Journal Of Investigative Dermatology 2024, 144: s171. DOI: 10.1016/j.jid.2024.06.1150.
- Hunt M, Wang N, Pupinyo N, Curman P, Torres M, Jebril W, Chatzinikolaou M, Lorent J, Silberberg G, Bansal R, Burner T, Zhou J, Kimeswenger S, Hoetzenecker W, Choate K, Bachar-Wikstrom E, Wikstrom J. Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment. EMBO Molecular Medicine 2024, 16: 1986-2001. PMID: 39060641, PMCID: PMC11392931, DOI: 10.1038/s44321-024-00104-3.
- Velasco R, Shao C, Cutler B, Strunck J, Kent G, Cassidy P, Choate K, Greiling T. Guselkumab for Pityriasis Rubra Pilaris and Dysregulation of IL-23/IL-17 and NFkB Signaling. JAMA Dermatology 2024, 160: 641-645. PMID: 38598229, PMCID: PMC11007649, DOI: 10.1001/jamadermatol.2024.0257.
- Singh K, Breidbart R, Jaiswal A, Damsky W, Choate K, Vesely M. Intravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab. JAAD Case Reports 2024, 49: 102-105. PMID: 38952857, PMCID: PMC11214983, DOI: 10.1016/j.jdcr.2024.05.002.
- Mortlock R, Choate K. How Efforts to Understand Somatic Mosaicism Will Impact Dermatology. Journal Of Investigative Dermatology 2024, 144: 453-455. PMID: 38395493, PMCID: PMC11009867, DOI: 10.1016/j.jid.2023.10.007.
- Haller C, Leszczynska M, Brichta L, Maier E, Riddington I, Choate K, Levy M. Topical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning‐Feuerstein‐Mims syndrome. Pediatric Dermatology 2024, 41: 523-525. PMID: 38273779, PMCID: PMC11096062, DOI: 10.1111/pde.15523.
- Echeandia‐Francis C, Sun Q, Asch S, Bayart C, Benjamin L, Cipriano S, Craiglow B, Dyer J, Levy M, Lilly E, Newell B, Liang J, Gan G, Deng Y, Paller A, Choate K. In‐person validation of the Ichthyosis Scoring System. Pediatric Dermatology 2024, 41: 247-252. PMID: 38234066, DOI: 10.1111/pde.15508.
- Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross C, Brambilla D, Witzigmann D, Kulkarni J, Cullis P, Hedtrich S. Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin. ACS Nano 2023, 17: 22046-22059. PMID: 37918441, PMCID: PMC10655174, DOI: 10.1021/acsnano.3c08644.
- Chen G, Goldust M, Choate K, Cohen J. Associations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program. Journal Of The American Academy Of Dermatology 2023, 90: 439-440. PMID: 37863200, DOI: 10.1016/j.jaad.2023.10.025.
- Seli D, Ellis K, Goldust M, Shah K, Hu R, Zhou J, McNiff J, Choate K. Association of Somatic ATP2A2 Damaging Variants With Grover Disease. JAMA Dermatology 2023, 159: 745-749. PMID: 37195706, PMCID: PMC10193258, DOI: 10.1001/jamadermatol.2023.1139.
- O’Connell K, Schaefer M, Atzmony L, Vleugels R, Choate K, LaChance A, Min M. Clinical features in adults with acquired cutis laxa: a retrospective review. British Journal Of Dermatology 2023, 188: 800-816. PMID: 36849736, PMCID: PMC10230959, DOI: 10.1093/bjd/ljad043.
- Braun M, Choate K, Mathes E. Nagashima‐type palmoplantar keratoderma: Case series and two novel variants. Pediatric Dermatology 2023, 40: 882-885. PMID: 36721328, DOI: 10.1111/pde.15265.
- Roy S, Sarhan J, Liu X, Murphy M, Bunick C, Choate K, Damsky W, McNiff J. Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings. British Journal Of Dermatology 2022, 188: 574-576. PMID: 36763786, DOI: 10.1093/bjd/ljac146.
- Sun Q, Marukian N, Cheraghlou S, Paller A, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu R, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams C, Loring E, Craiglow B, Milstone L, Lifton R, Boyden L, Choate K. 502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds. Journal Of Investigative Dermatology 2022, 142: s85. DOI: 10.1016/j.jid.2022.05.511.
- Atzmony L, Ugwu N, Hamilton C, Paller A, Zech L, Antaya R, Choate K. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology 2022, 39: 903-907. PMID: 35853659, PMCID: PMC9712156, DOI: 10.1111/pde.15094.
- Hong E, Hu R, Posligua A, Choate K, Durkin J. Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review. JAAD Case Reports 2022, 31: 93-96. PMID: 36545487, PMCID: PMC9762068, DOI: 10.1016/j.jdcr.2022.05.030.
- Sun Q, Paller A, Choate K. 25905 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrument. Journal Of The American Academy Of Dermatology 2021, 85: ab12. DOI: 10.1016/j.jaad.2021.06.073.
- Ugwu N, Atzmony L, Ellis K, Panse G, Jain D, Ko C, Nassiri N, Choate K. LB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic intervention. Journal Of Investigative Dermatology 2021, 141: b8. DOI: 10.1016/j.jid.2021.07.021.
- Lefferdink R, Chima M, Ibler E, Pavel A, Kim H, Wu B, Abu-Zayed H, Rangel S, Wu J, Zumpf K, Jackson K, Choate K, Guttman-Yassky E, Paller A. 428 Randomized, double-blind, placebo-controlled study of efficacy and safety of secukinumab to treat adults with ichthyoses. Journal Of Investigative Dermatology 2021, 141: s74. DOI: 10.1016/j.jid.2021.02.451.
- Sun Q, Paller A, Choate K. 422 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrument. Journal Of Investigative Dermatology 2021, 141: s73. DOI: 10.1016/j.jid.2021.02.445.
- Vahidnezhad H, Youssefian L, Touati A, Saeidian A, Harvey N, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Boyden L, Choate K, McGrath J, Uitto J. 186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Journal Of Investigative Dermatology 2021, 141: s33. DOI: 10.1016/j.jid.2021.02.206.
- Boyden L, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller A, Lifton R, Choate K. 180 ASPRV1 mutations cause dominantly inherited ichthyosis. Journal Of Investigative Dermatology 2021, 141: s32. DOI: 10.1016/j.jid.2021.02.200.
- Boyden L, Atzmony L, Zhou J, Lim Y, Hu R, Lifton R, Choate K. 294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness. Journal Of Investigative Dermatology 2020, 140: s36. DOI: 10.1016/j.jid.2020.03.300.
- Azmony L, Sun Q, Hamilton C, Lim Y, Leventhal J, Paller A, Choate K. 868 Pathogenesis based therapy improves cutaneous abnormalities in porokeratosis- A pilot study. Journal Of Investigative Dermatology 2020, 140: s113. DOI: 10.1016/j.jid.2020.03.884.
- Johnson K, Hovnanian A, Teng J, Paller A, Choate K, Elias P, Laura Z, Nguyen T, Smith D, Hsu A, Alani L, Lai C, Hsu L. 579 Rationale and design for the Kallikrein Inhibitor in Netherton Syndrome (KINS) pivotal clinical trial. Journal Of Investigative Dermatology 2020, 140: s79. DOI: 10.1016/j.jid.2020.03.589.
- Sun Q, Ren I, Zaki T, Maciejewski K, Choate K. 432 Ichthyosis affects mental health in adults and children: A cross-sectional study. Journal Of Investigative Dermatology 2020, 140: s57. DOI: 10.1016/j.jid.2020.03.440.
- Atzmony L, Khan H, Lim Y, Paller A, Levinsohn J, Holland K, Mirza F, Yin E, Ko C, Leventhal J, Choate K. 390 Second-hit, post-zygotic PMVKand MVD mutations cause linear porokeratosis. Journal Of Investigative Dermatology 2019, 139: s67. DOI: 10.1016/j.jid.2019.03.466.
- Olamiju B, Ren I, Li L, Deng Y, Marukian N, Zhou J, Hu R, Zaki T, Craiglow B, Choate K. 379 Quality of life in children with ichthyosis. Journal Of Investigative Dermatology 2018, 138: s64. DOI: 10.1016/j.jid.2018.03.385.
- Gupta K, Chen D, Levinsohn J, Choate K, Taketo M, Myung P. 1338 Dermal Wnt/β-catenin activation tunably controls hair follicle initiation. Journal Of Investigative Dermatology 2018, 138: s227. DOI: 10.1016/j.jid.2018.03.1355.
- Crumrine D, Khnykin D, Krieg P, Man M, Celli A, Mauro T, Menon G, Mauldin E, Miner J, Brash A, Sprecher E, Radner F, Choate K, Roop D, Uchida Y, Gruber R, Schmuth M, Elias P. 655 Origin and functions of the corneocyte lipid envelope. Journal Of Investigative Dermatology 2018, 138: s111. DOI: 10.1016/j.jid.2018.03.664.
- Boyden L, Vincent N, Zhou J, Hu R, Paller A, Lifton R, Baserga S, Choate K. 799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy. Journal Of Investigative Dermatology 2018, 138: s136. DOI: 10.1016/j.jid.2018.03.809.
- Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal Of Human Genetics 2017, 100: 978-984. PMID: 28575652, PMCID: PMC5473720, DOI: 10.1016/j.ajhg.2017.05.003.
- Khan H, Boyden L, Tomita S, Choate K. 463 GJA1 mutations causing erythrokeratodermia variabilis et progressiva display increased connexin hemichannel activity. Journal Of Investigative Dermatology 2017, 137: s80. DOI: 10.1016/j.jid.2017.02.482.
- Levinsohn J, Sugarman J, McNiff J, Freiden I, Antaya R, Choate K. 514 Somatic mutations in nevus comedonicus identify nek9 as a determinant of follicular keratinocyte cell fate. Journal Of Investigative Dermatology 2017, 137: s88. DOI: 10.1016/j.jid.2017.02.534.
- Mauldin E, Cassal M, Jeong S, Vavrova K, Uchida Y, Park K, Craiglow B, Choate K, Shin K, Lee Y, Khnykin D, Grove G, Elias P. 458 Cellular and metabolic basis for the ichthyotic phenotype in ichthyin deficiency. Journal Of Investigative Dermatology 2017, 137: s79. DOI: 10.1016/j.jid.2017.02.477.
- Theodosakis N, Levinsohn J, Lim Y, Paller A, Sugarman J, Choate K. 497 Genetic investigation of linear inflammatory disorders. Journal Of Investigative Dermatology 2017, 137: s85. DOI: 10.1016/j.jid.2017.02.517.
- Marukian N, Deng Y, Gan G, Ren I, Thermidor W, Craiglow B, Milstone L, Choate K. 291 Establishing and validating an ichthyosis severity index. Journal Of Investigative Dermatology 2017, 137: s50. DOI: 10.1016/j.jid.2017.02.307.
- Lim Y, Bacchiocchi A, Qiu J, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate K. 513 GNA14 somatic mutation causes congenital and sporadic vascular tumors by MAPK activation. Journal Of Investigative Dermatology 2017, 137: s88. DOI: 10.1016/j.jid.2017.02.533.
- Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, Genomics Y, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. American Journal Of Human Genetics 2016, 99: 443-450. PMID: 27476652, PMCID: PMC4974082, DOI: 10.1016/j.ajhg.2016.06.010.
- Lim Y, Saraceni C, Choate K. 392 A novel polyalanine frameshift mutation in KRT10 causes ichthyosis with confetti. Journal Of Investigative Dermatology 2016, 136: s69. DOI: 10.1016/j.jid.2016.02.426.
- Paller A, Suarez-Farinas M, Renert-Yuval Y, Oliva M, Huynh T, Esaki H, Suprun M, Friedland R, Wanderman R, Krueger J, Choate K, Guttman-Yassky E. 395 Disease severity and cutaneous inflammation in ichthyosis are linked to Th17 pathway activation. Journal Of Investigative Dermatology 2016, 136: s70. DOI: 10.1016/j.jid.2016.02.429.
- Boyden L, Kam C, Hernández-Martín A, Zhou J, Craiglow B, Milstone L, Hu R, Elias P, Green K, Choate K. 383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin. Journal Of Investigative Dermatology 2016, 136: s68. DOI: 10.1016/j.jid.2016.02.416.
- Marukian N, Zhou J, Hu R, Theos A, Kaymakcalan H, Bayliss S, Paller A, Boyden L, Choate K. 366 Bathing suit ichthyosis: Novel mutations and clues to pathogenesis. Journal Of Investigative Dermatology 2016, 136: s65. DOI: 10.1016/j.jid.2016.02.399.
- Levinsohn JL, Sugarman JL, Genomics Y, McNiff JM, Antaya RJ, Choate KA. Somatic Mutations in NEK9 Cause Nevus Comedonicus. American Journal Of Human Genetics 2016, 98: 1030-1037. PMID: 27153399, PMCID: PMC4863661, DOI: 10.1016/j.ajhg.2016.03.019.
- Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. Journal Of Cutaneous Pathology 2015, 42: 853-857. PMID: 26154588, PMCID: PMC4843784, DOI: 10.1111/cup.12551.
- Levinsohn JL, Sugarman JL, Bilguvar K, McNiff JM, Choate K, Genomics T. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. Journal Of Investigative Dermatology 2015, 135: 2536-2538. PMID: 25950823, PMCID: PMC4567902, DOI: 10.1038/jid.2015.180.
- Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. Journal Of Clinical Investigation 2015, 125: 1703-1707. PMID: 25774499, PMCID: PMC4396494, DOI: 10.1172/jci64415.
- Lim YH, Douglas SR, Ko CJ, Antaya RJ, McNiff JM, Zhou J, , Choate K, Narayan D. Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. Journal Of Investigative Dermatology 2015, 135: 1698-1700. PMID: 25695684, PMCID: PMC4430357, DOI: 10.1038/jid.2015.55.
- Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, , Paller A, Choate K. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Journal Of Investigative Dermatology 2014, 135: 1540-1547. PMID: 25398053, PMCID: PMC4430428, DOI: 10.1038/jid.2014.485.
- Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi. Journal Of Investigative Dermatology 2013, 134: 1149-1152. PMID: 24129065, PMCID: PMC3961553, DOI: 10.1038/jid.2013.430.
- Lim YH, Ovejero D, Sugarman JS, DeKlotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics 2013, 23: 397-407. PMID: 24006476, PMCID: PMC3869357, DOI: 10.1093/hmg/ddt429.
- Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus. Journal Of Investigative Dermatology 2012, 133: 827-830. PMID: 23096712, PMCID: PMC3556376, DOI: 10.1038/jid.2012.379.
- Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred. Pediatric Dermatology 2012, 29: 725-731. PMID: 22515571, PMCID: PMC3709244, DOI: 10.1111/j.1525-1470.2012.01757.x.
- Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.
- Wilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.
- Choate K, Lu Y, Lifton R. Claudins Mediate Specific Paracellular Fluxes in Vivo. 2001 DOI: 10.1201/9781420038538.ch22.
- Smith A, Skaug J, Choate K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Lifton R, Scherer S, Karet F. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics 2000, 26: 71-75. PMID: 10973252, DOI: 10.1038/79208.
- Simon D, Lu Y, Choate K, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton R. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption. Science 1999, 285: 103-106. PMID: 10390358, DOI: 10.1126/science.285.5424.103.
- Deng H, Choate K, Lin Q, Khavari P. High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human Keratinocytes. BioTechniques 1998, 25: 274-280. PMID: 9714888, DOI: 10.2144/98252gt02.
- Choate K, Khavari P, Williams M. Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis. Journal Of Investigative Dermatology 1998, 110: 8-12. PMID: 9424079, DOI: 10.1046/j.1523-1747.1998.00070.x.
- Choate K, Khavari P. Direct Cutaneous Gene Delivery in a Human Genetic Skin Disease. Human Gene Therapy 1997, 8: 1659-1665. PMID: 9322868, DOI: 10.1089/hum.1997.8.14-1659.
- Freiberg R, Choate K, Deng H, Alperin E, Shapiro L, Khavari P. A Model of Corrective Gene Transfer in X-Linked Ichthyosis. Human Molecular Genetics 1997, 6: 927-933. PMID: 9175741, DOI: 10.1093/hmg/6.6.927.
- Choate K, Khavari P. Sustainability of Keratinocyte Gene Transfer and Cell Survival In Vivo. Human Gene Therapy 1997, 8: 895-901. PMID: 9195211, DOI: 10.1089/hum.1997.8.8-895.
- Freiberg R, Spencer D, Choate K, Duh H, Schreiber S, Crabtree G, Khavari P. Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts. Journal Of Investigative Dermatology 1997, 108: 215-219. PMID: 9008237, DOI: 10.1111/1523-1747.ep12334273.
- Freiberg R, Spencer D, Choate K, Peng P, Schreiber S, Crabtree G, Khavari P. Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*. Journal Of Biological Chemistry 1996, 271: 31666-31669. PMID: 8940187, DOI: 10.1074/jbc.271.49.31666.
- Choate K, Medalie D, Morgan J, Khavari P. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nature Medicine 1996, 2: 1263-1267. PMID: 8898758, DOI: 10.1038/nm1196-1263.
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