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Keith Choate, MD, PhD

Aaron B. and Marguerite Lerner Professor and Chair of Dermatology. Professor of Genetics and Pathology. Associate Dean for Physician-Scientist Development

Research & Publications
Biography
News

Research Summary

We employ a comprehensive approach human genetic disorders, attempting to understand their clinical presenations by studying their genetics and pathobiology. Using genetic tools, we have identified new genetic causes of inherited disorders and we are actively studying how these genes function in health and disease.

Extensive Research Description

Genetics has informed our understanding of normal skin development and differentiation, largely due to the fact that mutations affecting the skin result in easily observed phenotypes. Genetic investigation has permitted us to identify a priori pathways previously unrecognized to be relevant to skin biology. These insights have been relevant to diagnosis, disease prevention, and development of novel therapeutics.

We have three ongoing projects in the lab:

1. Identification of novel genetic causes of inherited skin disorders including ichthyosis, inflammatory disorders and alopecia. We have developed one of the largest registries of kindreds with ichthyosis and have identified over 10 new genetic cause of this group of disorders – we employ cell, murine, and engineered tissue models to understand that biological basis of disease and the role of novel genes in disease pathobiology.

2. Identification of novel genetic causes of mosaic skin disorders including childhood malformations, vascular tumors, and linear presentations of inflammatory disorders. Mosaic disorders are the result of embryonic somatic mutation, with timing of mutation determining the extent of disease. Among other discoveries, we have systematically dissected pathways leading to development of aggressive infantile vascular tumors, identified novel causes of acne pathogenesis and hair follicle differentiation, and have identified Ras as a regulator of phosphate homeostasis. A new project is focused on linear manifestation of common inflammatory disorders such as lupus, psoriasis, and lichen planus with the expectation that investigation will identify novel pathways in cutaneous innate immunity.

3. Elucidation of mechanisms of revertant mosaicism in ichthyosis with confetti to enable therapeutic recombination in the skin. We have found that specific mutations in KRT1 and KRT10 cause ichthyosis with confetti which undergoes spontaneous self-correction via revertant mosaicism, resulting in hundreds to thousands of patches of normal skin. All spots arise from mitotic recombination, and have found that keratin mutations directly influence DNA damage and repair and that cellular competition favors reversion. We are employing forward genetics to identify the pathways relevant to recombination and competition.

Coauthors

Research Interests

Cell Biology; Genetics; Genetics, Medical; Ichthyosis; Mosaicism; Skin Diseases; Human Genome Project; Skin and Connective Tissue Diseases; Human Genetics

Public Health Interests

Genetics, Genomics, Epigenetics; Child/Adolescent Health

Selected Publications

Associations between ichthyosis and mood disorders: A case-control study in the All of Us Research ProgramChen 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.
Association of Somatic ATP2A2 Damaging Variants With Grover DiseaseSeli 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.
Clinical features in adults with acquired cutis laxa: a retrospective reviewO’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.
Nagashima‐type palmoplantar keratoderma: Case series and two novel variantsBraun 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.
Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findingsRoy 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.
502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindredsSun 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.
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disordersAtzmony 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.
Acral hemorrhagic Darier disease: A case report of a rare presentation and literature reviewHong 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.
25905 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrumentSun 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.
LB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic interventionUgwu 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.
428 Randomized, double-blind, placebo-controlled study of efficacy and safety of secukinumab to treat adults with ichthyosesLefferdink 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.
422 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrumentSun 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.
186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutationVahidnezhad 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.
180 ASPRV1 mutations cause dominantly inherited ichthyosisBoyden 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.
868 Pathogenesis based therapy improves cutaneous abnormalities in porokeratosis- A pilot studyAzmony 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.
579 Rationale and design for the Kallikrein Inhibitor in Netherton Syndrome (KINS) pivotal clinical trialJohnson 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.
432 Ichthyosis affects mental health in adults and children: A cross-sectional studySun 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.
294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindnessBoyden 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.
390 Second-hit, post-zygotic PMVKand MVD mutations cause linear porokeratosisAtzmony 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.
1338 Dermal Wnt/β-catenin activation tunably controls hair follicle initiationGupta 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.
655 Origin and functions of the corneocyte lipid envelopeCrumrine 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.
379 Quality of life in children with ichthyosisOlamiju 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.
380 Ichthyosis has a moderate impact on quality of life in adultsRen I, Olamiju B, Li L, Deng Y, Marukian N, Zaki T, Zhou J, Hu R, Milstone L, Choate K. 380 Ichthyosis has a moderate impact on quality of life in adults. Journal Of Investigative Dermatology 2018, 138: s64. DOI: 10.1016/j.jid.2018.03.386.
832 Mechanisms of spontaneous genetic reversion in ichthyosis with confettiLim Y, Lu Y, Mirza H, Zhou J, Hu R, Choate K. 832 Mechanisms of spontaneous genetic reversion in ichthyosis with confetti. Journal Of Investigative Dermatology 2018, 138: s141. DOI: 10.1016/j.jid.2018.03.842.
799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapyBoyden 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.
Mutations in KDSR Cause Recessive Progressive Symmetric ErythrokeratodermaBoyden 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.
463 GJA1 mutations causing erythrokeratodermia variabilis et progressiva display increased connexin hemichannel activityKhan 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.
514 Somatic mutations in nevus comedonicus identify nek9 as a determinant of follicular keratinocyte cell fateLevinsohn 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.
458 Cellular and metabolic basis for the ichthyotic phenotype in ichthyin deficiencyMauldin 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.
497 Genetic investigation of linear inflammatory disordersTheodosakis 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.
291 Establishing and validating an ichthyosis severity indexMarukian 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.
513 GNA14 somatic mutation causes congenital and sporadic vascular tumors by MAPK activationLim 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.
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK ActivationLim 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.
392 A novel polyalanine frameshift mutation in KRT10 causes ichthyosis with confettiLim 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.
395 Disease severity and cutaneous inflammation in ichthyosis are linked to Th17 pathway activationPaller 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.
383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakinBoyden 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.
373 Keratin network is regulated by nonsense mediated decay and ubiquitin-proteosome in epidermolyic ichthyosisMirza H, Lian R, Hu R, Zhou J, Choate K. 373 Keratin network is regulated by nonsense mediated decay and ubiquitin-proteosome in epidermolyic ichthyosis. Journal Of Investigative Dermatology 2016, 136: s66. DOI: 10.1016/j.jid.2016.02.406.
366 Bathing suit ichthyosis: Novel mutations and clues to pathogenesisMarukian 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.
351 Epidermal fragility in Keratin 10 ichthyosis with confetti mutation results from loss of keratin 1-desmoplakin interactionLu Y, Mirza H, Hu R, Zhou J, Crumrine D, Elias P, Lifton R, Choate K. 351 Epidermal fragility in Keratin 10 ichthyosis with confetti mutation results from loss of keratin 1-desmoplakin interaction. Journal Of Investigative Dermatology 2016, 136: s62. DOI: 10.1016/j.jid.2016.02.383.
Somatic Mutations in NEK9 Cause Nevus ComedonicusLevinsohn 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.
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier diseaseKnopp 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.
Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma PapilliferumLevinsohn 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.
Frequent somatic reversion of KRT1 mutations in ichthyosis with confettiChoate 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.
Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic GranulomaLim 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.
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital DysplasiaBoyden 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.
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal NeviLevinsohn 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.
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemiaLim 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.
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus SebaceusLevinsohn 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.
An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended KindredYang 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.
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10Choate 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.
Human Hypertension Caused by Mutations in WNK KinasesWilson 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.
Claudins Mediate Specific Paracellular Fluxes in VivoChoate K, Lu Y, Lifton R. Claudins Mediate Specific Paracellular Fluxes in Vivo. 2001 DOI: 10.1201/9781420038538.ch22.
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingSmith 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.
Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ ResorptionSimon 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.
High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human KeratinocytesDeng 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.
Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive IchthyosisChoate 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.
Direct Cutaneous Gene Delivery in a Human Genetic Skin DiseaseChoate 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.
A Model of Corrective Gene Transfer in X-Linked IchthyosisFreiberg 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.
Sustainability of Keratinocyte Gene Transfer and Cell Survival In VivoChoate 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.
Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human FibroblastsFreiberg 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.
Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*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.
Corrective gene transfer in the human skin disorder lamellar ichthyosisChoate 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.

Clinical Trials

Conditions	Study Title
Diseases of the Integumentary System; Genetics - Adult; Genetics - Pediatric	Does Ichthyosis Affect Growth Among Children?

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