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1,273 Newest Publications in human molecular genetics
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Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23
01-07-2013 | Fredrick R. Schumacher; Zhaoming Wang; Rolf I. Skotheim; Roelof Koster; Charles C. Chung; Michelle A. T. Hildebrandt ..., Human Molecular Genetics, 2013
Genome-wide association studies (GWASs) have identified multiple common genetic variants associated with an increased risk of testicular germ cell tumors (TGCTs). A previous GWAS reported a possible TGCT susceptibility locus on chromosome 1q23 in the UCK2 gene, but failed to reach ...
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
01-07-2013 | Caroline Vance; Emma L. Scotter; Agnes L. Nishimura; Claire Troakes; Jacqueline C. Mitchell; Claudia Kathe; Hazel Ur ..., Human Molecular Genetics, 2013
Mutations in the gene encoding Fused in Sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. FUS is a predominantly nuclear DNA- and RNA-binding protein that is involved in RNA processing. Large FUS-immunoreactive inclusions fill the perikaryon of ...
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity
01-07-2013 | Diana L. Cousminer; Diane J. Berry; Nicholas J. Timpson; Wei Ang; Elisabeth Thiering; Enda M. Byrne; H. Rob Taal; Vi ..., Human Molecular Genetics, 2013
The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent ...
Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function
01-07-2013 | Meagan R. Pitcher; Christopher S. Ward; E. Melissa Arvide; Christopher A. Chapleau; Lucas Pozzo-Miller; Andreas Hoef ..., Human Molecular Genetics, 2013
Rett syndrome (RTT), an X-linked postnatal disorder, results from mutations in Methyl CpG-binding protein 2 (MECP2). Survival and breathing in Mecp2NULL/Y animals are improved by an N-terminal tripeptide of insulin-like growth factor I (IGF-I) treatment. We determined that Mecp2NULL/Y ...
Temporal requirement for SMN in motoneuron development
01-07-2013 | Le T. Hao; Phan Q. Duy; James D. Jontes; Marc Wolman; Michael Granato; Christine E. Beattie, Human Molecular Genetics, 2013
Proper function of the motor unit is dependent upon the correct development of dendrites and axons. The infant/childhood onset motoneuron disease spinal muscular atrophy (SMA), caused by low levels of the survival motor neuron (SMN) protein, is characterized by muscle denervation and ...
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
01-07-2013 | Nikhita Ajit Bolar; Arnaud Vincent Vanlander; Claudia Wilbrecht; Nathalie Van der Aa; Joél Smet; Boel De Paepe; Geer ..., Human Molecular Genetics, 2013
Two siblings from consanguineous parents died perinatally with a condition characterized by generalized hypotonia, respiratory insufficiency, arthrogryposis, microcephaly, congenital brain malformations and hyperglycinemia. Catalytic activities of the mitochondrial respiratory complexes I ...
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis
01-07-2013 | Jake N. Miller; Chun-Hung Chan; David A. Pearce, Human Molecular Genetics, 2013
Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death. Currently, there are over 400 known mutations in 14 ...
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome
01-07-2013 | Jamal Ghoumid; Loïc Drevillon; Seyedeh Maryam Alavi-Naini; Nadège Bondurand; Marlène Rio; Audrey Briand-Suleau; Mays ..., Human Molecular Genetics, 2013
Mowat–Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR). ...
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis
15-06-2013 | Edor Kabashi; Hajer El Oussini; Valérie Bercier; François Gros-Louis; Paul N. Valdmanis; Jonathan McDearmid; Inge A. ..., Human Molecular Genetics, 2013
The mutations P56S and T46I in the gene encoding vesicle-associated membrane protein-associated protein B/C (VAPB) cause ALS8, a familial form of amyotrophic lateral sclerosis (ALS). Overexpression of mutant forms of VAPB leads to cytosolic aggregates, suggesting a gain of function of the ...
PINK1 and Parkin complementarily protect dopaminergic neurons in vertebrates
15-06-2013 | Hideaki Matsui; Roberto Gavinio; Takeshi Asano; Norihito Uemura; Hidefumi Ito; Yoshihito Taniguchi; Yoshito Kobayash ..., Human Molecular Genetics, 2013
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by selective dopaminergic cell loss in the substantia nigra, but its pathogenesis remains unclear. The recessively inherited familial PD genes PARK2 and PARK6 have been attributed to mutations in the Parkin and ...
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