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1,190 Newest Publications in human molecular genetics
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matching the following criteria
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
15-05-2011 | Yıldırım, Yeşerin; Kocasoy Orhan, Elif; Ugur Iseri, Sibel Aylin; Serdaroglu-Oflazer, Piraye; Kara, Bülent; Solakoğlu ..., Human Molecular Genetics, 2011
We present a family afflicted with a novel autosomal recessive disease characterized by progressive intellectual disability, motor dysfunction and multiple joint contractures. No pathology was found by cranial imaging, electromyography and muscle biopsy, but electron microscopy in leukocytes ...
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
15-05-2011 | Melko, Mireille; Douguet, Dominique; Bensaid, Mounia; Zongaro, Samantha; Verheggen, Céline; Gecz, Jozef; Bardoni, Ba ..., Human Molecular Genetics, 2011
The AFF (AF4/FMR2) family of genes includes four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the ...
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area
01-05-2011 | Khor, Chiea Chuen; Ramdas, Wishal D.; Vithana, Eranga N.; Cornes, Belinda K.; Sim, Xueling; Tay, Wan-Ting; Saw, Sean ..., Human Molecular Genetics, 2011
Damage to the optic nerve (e.g. from glaucoma) has an adverse and often irreversible impact on vision. Earlier studies have suggested that the size of the optic nerve head could be governed by hereditary factors. We conducted a genome-wide association study (GWAS) on 4445 Singaporean ...
Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation
01-05-2011 | van Zelm, Menno C.; Smet, Julie; van der Burg, Mirjam; Ferster, Alina; Le, Phu Quoc; Schandené, Liliane; van Dongen, ..., Human Molecular Genetics, 2011
Immunoglobulin superfamily (IgSF) domains are conserved structures present in many proteins in eukaryotes and prokaryotes. These domains are well-capable of facilitating sequence variation, which is most clearly illustrated by the variable regions in immunoglobulins (Igs) and T cell ...
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice
01-05-2011 | Bosch-Marcé, Marta; Wee, Claribel D.; Martinez, Tara L.; Lipkes, Celeste E.; Choe, Dong W.; Kong, Lingling; Van Meer ..., Human Molecular Genetics, 2011
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein. Severe SMA mice have abnormal motor function and small, immature myofibers early in development suggesting that SMN protein ...
Age-dependent expression of MeCP2 in a heterozygous mosaic mouse model
01-05-2011 | Smrt, Richard D.; Pfeiffer, Rebecca L.; Zhao, Xinyu, Human Molecular Genetics, 2011
Functional deficiency of the X-linked methyl-CPG binding protein 2 (MeCP2) leads to the neurodevelopmental disorder Rett syndrome (RTT). Due to random X-chromosome inactivation (XCI), most RTT patients are females who are heterozygous for the MECP2 mutation and therefore mosaic in MeCP2 ...
Puromycin-sensitive aminopeptidase (PSA/NPEPPS) impedes development of neuropathology in hPSA/TAUP301L double-transgenic mice
01-05-2011 | Kudo, Lili C.; Parfenova, Liubov; Ren, Guijie; Vi, Nancy; Hui, Maria; Ma, Zhongcai; Lau, Kimbley; Gray, Michelle; Ba ..., Human Molecular Genetics, 2011
Accumulation of neurotoxic hyperphosphorylated TAU protein is a major pathological hallmark of Alzheimer disease and other neurodegenerative dementias collectively called tauopathies. Puromycin-sensitive aminopeptidase (PSA/NPEPPS) is a novel modifier of TAU-induced neurodegeneration with ...
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
01-05-2011 | Pigors, Manuela; Kiritsi, Dimitra; Krümpelmann, Sebastian; Wagner, Nicola; He, Yinghong; Podda, Maurizio; Kohlhase, ..., Human Molecular Genetics, 2011
Epidermal integrity is essential for skin functions. It is maintained by adhesive structures between keratinocytes, mainly the desmosomes and adherens junctions, which provide resistance against mechanical stress and regulate the formation of the skin barrier. As a constituent of both types ...
Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-{beta}1 via cleavage of proTGF-{beta}1
01-05-2011 | Shiga, Atsushi; Nozaki, Hiroaki; Yokoseki, Akio; Nihonmatsu, Megumi; Kawata, Hirotoshi; Kato, Taisuke; Koyama, Akihi ..., Human Molecular Genetics, 2011
Cerebral small-vessel disease is a common disorder in elderly populations; however, its molecular basis is not well understood. We recently demonstrated that mutations in the high-temperature requirement A (HTRA) serine peptidase 1 (HTRA1) gene cause a hereditary cerebral small-vessel ...
Matrix metalloproteinase-2 ablation in dystrophin-deficient mdx muscles reduces angiogenesis resulting in impaired growth of regenerated muscle fibers
01-05-2011 | Miyazaki, Daigo; Nakamura, Akinori; Fukushima, Kazuhiro; Yoshida, Kunihiro; Takeda, Shin'ichi; Ikeda, Shu-ichi, Human Molecular Genetics, 2011
Matrix metalloproteases (MMPs) are a family of endopeptidases classified into subgroups based on substrate preference in normal physiological processes such as embryonic development and tissue remodeling, as well as in various disease processes via degradation of extracellular matrix ...
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