Human hypertension caused by mutations in WNK kinases FH Wilson, S Disse-Nicodeme, KA Choate, K Ishikawa, ... Science 293 (5532), 1107-1112, 2001 | 1657 | 2001 |
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption DB Simon, Y Lu, KA Choate, H Velazquez, E Al-Sabban, M Praga, ... Science 285 (5424), 103-106, 1999 | 1345 | 1999 |
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities LM Boyden, M Choi, KA Choate, CJ Nelson-Williams, A Farhi, HR Toka, ... Nature 482 (7383), 98-102, 2012 | 659 | 2012 |
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing AN Smith, J Skaug, KA Choate, A Nayir, A Bakkaloglu, S Ozen, SA Hulton, ... Nature genetics 26 (1), 71-75, 2000 | 520 | 2000 |
WNK4 regulates apical and basolateral Cl–flux in extrarenal epithelia KT Kahle, I Gimenez, H Hassan, FH Wilson, RD Wong, B Forbush, ... Proceedings of the National Academy of Sciences 101 (7), 2064-2069, 2004 | 209 | 2004 |
Corrective gene transfer in the human skin disorder lamellar ichthyosis KA Choate, DA Medalie, JR Morgan, PA Khavari Nature medicine 2 (11), 1263-1267, 1996 | 207 | 1996 |
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10 KA Choate, Y Lu, J Zhou, M Choi, PM Elias, A Farhi, C Nelson-Williams, ... Science 330 (6000), 94-97, 2010 | 195 | 2010 |
An IL-17–dominant immune profile is shared across the major orphan forms of ichthyosis AS Paller, Y Renert-Yuval, M Suprun, H Esaki, M Oliva, TN Huynh, ... Journal of Allergy and Clinical Immunology 139 (1), 152-165, 2017 | 174 | 2017 |
WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl−-transporting epithelia KA Choate, KT Kahle, FH Wilson, C Nelson-Williams, RP Lifton Proceedings of the National Academy of Sciences 100 (2), 663-668, 2003 | 164 | 2003 |
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia YH Lim, D Ovejero, JS Sugarman, CMC DeKlotz, A Maruri, LF Eichenfield, ... Human molecular genetics 23 (2), 397-407, 2014 | 142 | 2014 |
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein M Gunel, MSH Laurans, D Shin, ML DiLuna, J Voorhees, K Choate, ... Proceedings of the National Academy of Sciences 99 (16), 10677-10682, 2002 | 142 | 2002 |
Direct cutaneous gene delivery in a human genetic skin disease KA Choate, PA Khavari Human gene therapy 8 (14), 1659-1665, 1997 | 140 | 1997 |
Fas signal transduction triggers either proliferation or apoptosis in human fibroblasts RA Freiberg, DM Spencer, KA Choate, HJ Duh, SL Schreiber, ... Journal of investigative dermatology 108 (2), 215-219, 1997 | 137 | 1997 |
GNA14 somatic mutation causes congenital and sporadic vascular tumors by MAPK activation YH Lim, A Bacchiocchi, J Qiu, R Straub, A Bruckner, L Bercovitch, ... The American Journal of Human Genetics 99 (2), 443-450, 2016 | 127 | 2016 |
Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes KA CHOATE, TM KINSELLA, ML WILLIAMS, GP NOLAN, PA KHAVARI Human gene therapy 7 (18), 2247-2253, 1996 | 112 | 1996 |
WNK1 phosphorylates synaptotagmin 2 and modulates its membrane binding BH Lee, X Min, CJ Heise, B Xu, S Chen, H Shu, K Luby-Phelps, ... Molecular cell 15 (5), 741-751, 2004 | 108 | 2004 |
A model of corrective gene transfer in X-linked ichthyosis RA Freiberg, KA Choate, H Deng, ES Alperin, LJ Shapiro, PA Khavari Human molecular genetics 6 (6), 927-933, 1997 | 105 | 1997 |
Single-cell analysis reveals a hair follicle dermal niche molecular differentiation trajectory that begins prior to morphogenesis K Gupta, J Levinsohn, G Linderman, D Chen, TY Sun, D Dong, ... Developmental cell 48 (1), 17-31. e6, 2019 | 104 | 2019 |
CARD14-associated papulosquamous eruption: a spectrum including features of psoriasis and pityriasis rubra pilaris BG Craiglow, LM Boyden, R Hu, M Virtanen, J Su, G Rodriguez, ... Journal of the American Academy of Dermatology 79 (3), 487-494, 2018 | 97 | 2018 |
Sustainable cutaneous gene delivery H Deng, Q Lin, PA Khavari Nature biotechnology 15 (13), 1388-1391, 1997 | 97 | 1997 |