Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndromepp241 - 247 Giuseppe Pilia, Rhiannon M. Hughes-Benzie, Alex MacKenzie, Primo Baybayan, Ellson Y. Chen, Reid Huber, Giovanni Neri, Antonio Cao, Antonino Forabosco
& David Schlessinger doi:10.1038/ng0396-241 Abstract + references|PDF
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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1pp248 - 253 Sue S. Chang, Stefan Grunder, Aaron Hanukoglu, Ariel Rösler, P.M. Mathew, Israel Hanukoglu, Laurent Schild, Yin Lu, Richard A. Shimkets, Carol Nelson-Williams, Bernard C. Rossier
& Richard P. Lifton doi:10.1038/ng0396-248 Abstract + references|PDF
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Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophypp254 - 259 Atsushi Nagano, Ritsuko Koga, Megumu Ogawa, Yoshihiro Kurano, Junya Kawada, Ryozo Okada, Yukiko K. Hayashi, Toshifumi Tsukahara
& Kiichi Arahata doi:10.1038/ng0396-254 Abstract + references|PDF
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The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteinspp260 - 265 Thomas A. Ebersole, Qi Chen, Monica J. Justice
& Karen Artzt doi:10.1038/ng0396-260 Abstract + references|PDF
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Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type Ipp266 - 273 Ken Overturf, Muhsen Al-Dhalimy, Robert Tanguay, Mark Brantly, Ching-Nan Ou, Milton Finegold
& Markus Grompe doi:10.1038/ng0396-266 Abstract + references|PDF
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Ectopic expression of thyrotropin releasing hormone (TRH) receptors in liver modulates organ function to regulate blood glucose by TRHpp274 - 279 Gerhard Wolff, Andrea Mastrangeli, Marcos Heinflink, Erik Falck-Pedersen, Marvin C. Gershengorn
& Ronald G. Crystal doi:10.1038/ng0396-274 Abstract + references|PDF
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Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factorpp280 - 287 Richard Rozmahe, Michael Wilschanski, Angabin Matin, Suzanne Plyte, Mary Oliver, Wojtek Auerbach, Aideen Moore, Janet Forstner, Peter Durie, Joseph Nadeau, Christine Bear
& Lap-Chee Tsui doi:10.1038/ng0396-280 Abstract + references|PDF
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like elementpp288 - 297 Lawrence T. Reiter, Tatsufumi Murakami, Thearith Koeuth, Liu Pentao, Donna M. Muzny, Richard A. Gibbs
& James R. Lupski doi:10.1038/ng0396-288 Abstract + references|PDF
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Growth retardation and tumour inhibition by BRCA1pp298 - 302 Jeffrey T. Holt, Marilyn E. Thompson, Csilla Szabo, Cheryl Robinson-Benion, Carlos L. Arteaga, Mary-Claire King
& Roy A. Jensen doi:10.1038/ng0396-298 Abstract + references|PDF
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BRCA1 is secreted and exhibits properties of a graninpp303 - 308 Roy A. Jensen, Marilyn E. Thompson, Thomas L. Jetton, Csilla I. Szabo, Riet van der Meer, Bassam Helou, Steven R. Tronick, David L. Page, Mary-Claire King
& Jeffrey T. Holt doi:10.1038/ng0396-303 Abstract + references|PDF
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Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locuspp309 - 311 Catherine M. Phelan, Timothy R. Rebbeck, Barbara L. Weber, Peter Devilee, Martin H. Ruttledge, Henry T. Lynch, Gilbert M. Lenoir, Michael R. Stratton, Douglas F. Easton, Bruce A. J. Ponder, Lisa Cannon-Albright, Catharina Larsson, David E. Goldgar
& Steven A. Narod doi:10.1038/ng0396-309 Abstract + references|PDF
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Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasmpp312 - 314 B. Jack Longley, Lynda Tyrrell, Shu-Zhuang Lu, Yong-Sheng Ma, Keith Langley, Tie-gang Ding, Thomas Duffy, Peter Jacobs, Laura H. Tang
& Irvin Modlin doi:10.1038/ng0396-312 Abstract + references|PDF
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A human chondrodysplasia due to a mutation in a TGF- superfamily memberpp315 - 317 J. Terrig Thomas, Keming Lin, Maithily Nandedkar, Mauricio Camargo, Jaroslav Cervenka
& Frank P. Luyten doi:10.1038/ng0396-315 Abstract + references|PDF
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Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptinpp318 - 320 Farid F. Chehab, Mary E. Lim
& Ronghua Lu doi:10.1038/ng0396-318 Abstract + references|PDF
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CpG islands of chicken are concentrated on microchromosomespp321 - 324 Heather A. McQueen, Judy Fantes, Sally H. Cross, Victoria H. Clark, Alan L. Archibald
& Adrian P. Bird doi:10.1038/ng0396-321 Abstract + references|PDF
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Early death due to defective neonatal lung liquid clearance in ENaC-deficient micepp325 - 328 Edith Hummler, Pierre Barker, John Gatzy, Friedrich Beermann, Chantal Verdumo, Andrea Schmidt, Richard Boucher
& Bernard C. Rossier doi:10.1038/ng0396-325 Abstract + references|PDF
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An RNA recognition motif in Wilms' tumour protein (WT1) revealed by structural modellingpp329 - 332 Derek Kennedy, Trade Ramsdale, John Mattick
& Melissa Little doi:10.1038/ng0396-329 Abstract + references|PDF
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The complete BRCA2 gene and mutations in chromosome 13q-linked kindredspp333 - 337 S.V. Tavtigian, J. Simard, J. Rommens, F. Couch, D. Shattuck-Eidens, S. Neuhausen, S. Merajver, S. Thorlacius, K. Offit, D. Stoppa-Lyonnet, C. Belanger, R. Bell, S. Berry, R. Bogden, Q. Chen, T. Davis, M. Dumont, C. Frye, T. Hattier, S. Jammulapati, T. Janecki, P. Jiang, R. Kehrer, J.-F. Leblanc, J.T. Mitchell, J. McArthur-Morrison, K. Nguyen, Y. Peng, C. Samson, M. Schroeder, S.C. Snyder, L. Steele, M. Stringfellow, C. Stroup, B. Swedlund, J. Swense, D. Teng, A. Thomas, T. Tran, M. Tranchant, J. Weaver-Feldhaus, A.K.C. Wong, H. Shizuya, J.E. Eyfjord, L. Cannon-Albright, M. Tranchant, F. Labrie, M.H. Skolnick, B. Weber, A. Kamb
& D.E. Goldgar doi:10.1038/ng0396-333 Abstract + references|PDF
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superfamily member
ENaC-deficient mice
