Human Molecular Genetics

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
pp. 1907-1917(11)
Authors: Bondurand, Nadege; Pingault, Veronique; Goerich, DerkE.; Lemort, Nicole; Sock, Elisabeth; Caignec, Cedric Le; Wegner, Michael; Goossens, Michel

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
pp. 1919-1926(8)
Authors: Chapple, J. Paul; Hardcastle, AlisonJ.; Grayson, Celene; Spackman, L.A.; Willison, KeithR.; Cheetham, MichaelE.

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
pp. 1927-1935(9)
Authors: Forbes, John R.; Cox, DianeW.

The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus
pp. 1937-1942(6)
Authors: Carrel, Tessa; Purandare, Smita M.; Harrison, Wilbur; Elder, Frederick; Fox, Terry; Casey, Brett; Herman, GailE.

Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor
pp. 1943-1949(7)
Authors: Glenn, Cheryl L.; Wang, WilliamY.S.; Benjafield, Adam V.; Morris, BrianJ.

The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism
pp. 1951-1955(5)
Authors: Has, Cristina; Bruckner-Tuderman, Leena; Müller, Dietmar; Floeth, Michaela; Folkers, Elzo; Donnai, Diana; Traupe, Heiko

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation
pp. 1957-1966(10)
Authors: Gaspar, Claudia; Jannatipour, Merhdad; Dion, Patrick; Laganière, Janet; Sequeiros, Jorge; Brais, Bernard; Rouleau, Guy A.

Creation of a mouse model for non-neurological (type B) Niemann–Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function
pp. 1967-1976(10)
Authors: Marathe, Sudhir; Miranda, SilviaR.P.; Devlin, Cecilia; Johns, Anthony; Kuriakose, George; Williams, KevinJon; Schuchman, EdwardH.; Tabas, Ira

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins
pp. 1977-1986(10)
Authors: Meister, Gunter; Bühler, Dirk; Laggerbauer, Bernhard; Zobawa, Monika; Lottspeich, Friedrich; Fischer, Utz

Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context
pp. 1987-1994(8)
Authors: McGettrick, Aileen J.; Knott, Vroni; Willis, Anthony; Handford, Penny A.

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures
pp. 1995-1999(5)
Authors: Shimozawa, Nobuyuki; Suzuki, Yasuyuki; Zhang, Zhongyi; Imamura, Atsushi; Ghaedi, Kamran; Fujiki, Yukio; Kondo, Naomi

A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
pp. 2001-2008(8)
Authors: Zhou, Yong-Xing; Xu, Xiaoling; Chen, Lin; Li, Cuiling; Brodie, StevenG.; Deng, Chu-Xia

Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity
pp. 2009-2018(10)
Authors: Jana, Nihar Ranjan; Tanaka, Motomasa; Wang, Guang-hui; Nukina, Nobuyuki

Molecular and genetic characterization of sarcospan: insights into sarcoglycan–sarcospan interactions
pp. 2019-2027(9)
Authors: Crosbie, Rachelle H.; Lim, LelandE.; Moore, StevenA.; Hirano, Michio; Hays, Arthur P.; Maybaum, Simon W.; Collin, Huguette; Dovico, Sherri A.; Stolle, CatherineA.; Fardeau, Michel; Tomé, Fernando M.S.; Campbell, Kevin P.

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q
pp. 2029-2042(14)
Authors: Guy, J.; Spalluto, C.; McMurray, A.; Hearn, T.; Crosier, M.; Viggiano, L.; Miolla, V.; Archidiacono, N.; Rocchi, M.; Scott, C.; Lee, P.A.; Sulston, J.; Rogers, J.; Bentley, D.; Jackson, M.S.

Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor gene and their relationship to bone mass variation in postmenopausal Italian women
pp. 2043-2050(8)
Authors: Becherini, Lucia; Gennari, Luigi; Masi, Laura; Mansani, Riccardo; Massart, Francesco; Morelli, Annamaria; Falchetti, Alberto; Gonnelli, Stefano; Fiorelli, Gianna; Tanini, Annalisa; Brandi, Maria Luisa

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
pp. 2051-2058(8)
Authors: Sertié, Andréa Laurato; Sossi, Vitorio; Camargo, AnaMaria A.; Zatz, Mayana; Brahe, Christina; Passos-Bueno, Maria Rita

Mutations in the a3 subunit of the vacuolar H⁺-ATPase cause infantile malignant osteopetrosis
pp. 2059-2063(5)
Authors: Kornak, Uwe; Schulz, Ansgar; Friedrich, Wilhelm; Uhlhaas, Siegfried; Kremens, Bernhard; Voit, Thomas; Hasan, Carola; Bode, Udo; Jentsch, Thomas J.; Kubisch, Christian