Human Molecular Genetics

Transcriptome analysis of human autosomal trisomy
pp. 3249-3256(8)
Authors: D.R. FitzPatrick; J. Ramsay; N.I. McGill; M. Shade; A.D. Carothers; N.D. Hastie

A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor
pp. 3257-3265(9)
Authors: K. Li; M.A. Ramirez; E. Rose; A.L. Beaudet

The maternally transcribed gene p57^KIP2 (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles
pp. 3267-3272(6)
Authors: R.A. Fisher; M.D. Hodges; H.C. Rees; N.J. Sebire; M.J. Seckl; E.S. Newlands; D.R. Genest; D.H. Castrillon

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes
pp. 3273-3281(9)
Authors: G. Gyapay; P. de Lonlay; S. Romana; C. Mugnier; J. Weissenbach; D. Sanlaville; A. Munnich; K. Chantrel-Groussard; P. Rustin; P. Bénit; A. Rötig; S. Lebon; D. Chrétien; N. Kadhom; S. Saker

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
pp. 3283-3298(16)
Authors: Y.K. Hayashi; S. Campanaro; G. Valle; C. Romualdi; C. Angelini; M. Fanin; G. Lanfranchi; B. Celegato; B. Pacchioni; S. Trevisan; P. Laveder; C. de Pittà; E. Pegoraro

Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting
pp. 3299-3308(10)
Authors: C. Ramsey; A. Bukrinsky; L. Peltonen

Molybdenum cofactor-deficient mice resemble the phenotype of human patients
pp. 3309-3317(9)
Authors: H-J. Lee; I.M. Adham; G. Schwarz; M. Kneussel; J.O. Sass; W. Engel; J. Reiss

Functional requirements for fukutin-related protein in the Golgi apparatus
pp. 3319-3331(13)
Authors: D.J. Blake; C.T. Esapa; M.A. Benson; J.E. Schröder; E. Martin-Rendon; M. Brockington; S.C. Brown; F. Muntoni; S. Kröger

Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system
pp. 3333-3344(12)
Authors: R. Fisher; J.M. Gillis; K.E. Davies; S. Squire; J.M. Raymackers; C. Vandebrouck; A. Potter; J. Tinsley

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle
pp. 3345-3350(6)
Authors: J.A. Goodship; D. Morgan; L. Eley; J. Sayer; T. Strachan; L.M. Yates; A.S. Craighead

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice
pp. 3351-3359(9)
Authors: Dominique Helmlinger; Gaël Yvert; Serge Picaud; Karine Merienne; José Sahel; Jean-Louis Mandel; Didier Devys

Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria
pp. 3361-3369(9)
Authors: C.M. Dobson; T. Wai; D. Leclerc; H. Kadir; M. Narang; J.P. Lerner-Ellis; T.J. Hudson; D.S. Rosenblatt; R.A. Gravel