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121 Newest Publications in human molecular genetics
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A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type
15-01-2013 | Krista A. Geister; Michelle L. Brinkmeier; Minnie Hsieh; Susan M. Faust; I. Jill Karolyi; Joseph E. Perosky; Kenneth ..., Human Molecular Genetics, 2013
We discovered a new spontaneous mutant allele of Npr2 named peewee (pwe) that exhibits severe disproportionate dwarfism and female infertility. The pwe phenotype is caused by a four base-pair deletion in exon 3 that generates a premature stop codon at codon 313 (L313X). The Npr2pwe/pwe mouse ...
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
15-01-2013 | Robin Lemmens; Alessandra Maugeri; Hans W. M. Niessen; An Goris; Thomas Tousseyn; Philippe Demaerel; Anniek Corveley ..., Human Molecular Genetics, 2013
Mutations in COL4A1 have been identified in families with hereditary small vessel disease of the brain presumably due to a dominant-negative mechanism. Here, we report on two novel mutations in COL4A1 in two families with porencephaly, intracerebral hemorrhage and severe white matter disease ...
Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition
01-01-2013 | Justin M. Percival; Michael P. Siegel; Gary Knowels; David J. Marcinek, Human Molecular Genetics, 2013
Given the crucial roles for mitochondria in ATP energy supply, Ca2+ handling and cell death, mitochondrial dysfunction has long been suspected to be an important pathogenic feature in Duchenne muscular dystrophy (DMD). Despite this foresight, mitochondrial function in dystrophin-deficient ...
Kinetochore KMN network gene CASC5 mutated in primary microcephaly
15-12-2012 | Anne Genin; Julie Desir; Nelle Lambert; Martine Biervliet; Nathalie Van Der Aa; Genevieve Pierquin; Audrey Killian; ..., Human Molecular Genetics, 2012
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no ...
Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression
01-12-2012 | Lanying Song; Yuxi Shan; K.C. Kent Lloyd; Gino A. Cortopassi, Human Molecular Genetics, 2012
Parkinson's disease (PD) is the second most common neurodegenerative disorder in the developed world, and is characterized by the loss of dopaminergic (DA) neurons in the substantia nigra (SN). Somatic mitochondrial DNA (mtDNA) deletions reach their highest concentration with age in the SN ...
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies
01-12-2012 | Silvio Alessandro Di Gioia; Stef J.F. Letteboer; Corinne Kostic; Dikla Bandah-Rozenfeld; Lisette Hetterschijt; Dror ..., Human Molecular Genetics, 2012
Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have previously demonstrated that RP can be caused by recessive mutations in the human FAM161A gene, encoding a protein with unknown function that contains a conserved ...
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia
01-12-2012 | Paula Dietrich; Shanta Alli; Revathi Shanmugasundaram; Ioannis Dragatsis, Human Molecular Genetics, 2012
Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the ...
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice
01-12-2012 | Cuiling Lu; Li Lin; Huiping Tan; Hao Wu; Stephanie L. Sherman; Fei Gao; Peng Jin; Dahua Chen, Human Molecular Genetics, 2012
Spontaneous 46,XX primary ovarian insufficiency (POI), also known as ‘premature menopause’ or ‘premature ovarian failure’, refers to ovarian dysfunction that results in a range of abnormalities, from infertility to early menopause as the end stage. The most common known genetic cause of POI ...
Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
01-12-2012 | Guangfu Jin; Jielin Sun; Seong-Tae Kim; Junjie Feng; Zhong Wang; Sha Tao; Zhuo Chen; Lina Purcell; Shelly Smith; Wil ..., Human Molecular Genetics, 2012
Circulating androgen levels are often used as indicators of physiological or pathological conditions. More than half of the variance for circulating androgen levels is thought to be genetically influenced. A genome-wide association study (GWAS) has identified two loci, SHBG at 17p13 and ...
Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome
15-11-2012 | Timothy Wells; Jennifer R. Davies; Irina A. Guschina; Daniel J. Ball; Jeffrey S. Davies; Vanessa J. Davies; Bronwen ..., Human Molecular Genetics, 2012
The interrelationship between brown adipose tissue (BAT) and white adipose tissue (WAT) is emerging as an important factor in obesity, but the effect of impairing non-shivering thermogenesis in BAT on lipid storage in WAT remains unclear. To address this, we have characterized the metabolic ...
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