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Volume 15, Issue 7, 1 April 2006
Articles
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail
Dominik Müller and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1049–1058, https://doi.org/10.1093/hmg/ddl020
Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c)
Daniel R. Scoles and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1059–1070, https://doi.org/10.1093/hmg/ddl021
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction
Nahid G. Robertson and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1071–1085, https://doi.org/10.1093/hmg/ddl022
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras
Frances Hannan and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1087–1098, https://doi.org/10.1093/hmg/ddl023
Allelic recombination and de novo deletions in sperm in the human β-globin gene region
Kim Holloway and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1099–1111, https://doi.org/10.1093/hmg/ddl025
The truncated prelamin A in Hutchinson–Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers
Erwan Delbarre and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1113–1122, https://doi.org/10.1093/hmg/ddl026
Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications
M.L. De Bonis and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1123–1132, https://doi.org/10.1093/hmg/ddl027
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
Felix B. Müller and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1133–1141, https://doi.org/10.1093/hmg/ddl028
Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome
Ivan P. Gorlov and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1143–1150, https://doi.org/10.1093/hmg/ddl029
Multiple candidate gene analysis identifies α-synuclein as a susceptibility gene for sporadic Parkinson's disease
Ikuko Mizuta and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1151–1158, https://doi.org/10.1093/hmg/ddl030
High-throughput genotyping of intermediate-size structural variation
Tera L. Newman and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1159–1167, https://doi.org/10.1093/hmg/ddl031
A mouse model for Glut-1 haploinsufficiency
Dong Wang and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1169–1179, https://doi.org/10.1093/hmg/ddl032
Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk
Jin Hee Kim and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1181–1186, https://doi.org/10.1093/hmg/ddl033
Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase
Ting-Ting Huang and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1187–1194, https://doi.org/10.1093/hmg/ddl034
SRPX2 mutations in disorders of language cortex and cognition
Patrice Roll and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1195–1207, https://doi.org/10.1093/hmg/ddl035
Rapamycin pre-treatment protects against apoptosis
Brinda Ravikumar and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1209–1216, https://doi.org/10.1093/hmg/ddl036
Mitotic defects in XRCC3 variants T241M and D213N and their relation to cancer susceptibility
Anna Renglin Lindh and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1217–1224, https://doi.org/10.1093/hmg/ddl037
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
Monica Cardone and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1225–1236, https://doi.org/10.1093/hmg/ddl038
Positive association between POU1F1 and mental retardation in young females in the Chinese Han population
Yun Sun and others
Human Molecular Genetics, Volume 15, Issue 7, 1 April 2006, Pages 1237–1243, https://doi.org/10.1093/hmg/ddl039
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