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42 Newest Publications in human molecular genetics
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matching the following criteria
The GTPase ARFRP1 controls the lipidation of chylomicrons in the Golgi of the intestinal epithelium
15-07-2012 | Alexander Jaschke; Bomee Chung; Deike Hesse; Reinhart Kluge; Claudia Zahn; Markus Moser; Klaus-Jürgen Petzke; Regina ..., Human Molecular Genetics, 2012
The uptake and processing of dietary lipids by the small intestine is a multistep process that involves several steps including vesicular and protein transport. The GTPase ADP-ribosylation factor-related protein 1 (ARFRP1) controls the ARF-like 1 (ARL1)-mediated Golgi recruitment of GRIP ...
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations
15-05-2012 | Lanciotti, Angela; Brignone, Maria S.; Molinari, Paola; Visentin, Sergio; De Nuccio, Chiara; Macchia, Gianfranco; Ai ..., Human Molecular Genetics, 2012
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare leukodystrophy characterized by macrocephaly, subcortical fluid cysts and myelin vacuolation, has been linked to mutations in the MLC1 gene. This gene encodes a membrane protein that is highly expressed in astrocytes. ...
TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia
01-05-2012 | An, Peng; Wu, Qian; Wang, Hao; Guan, Yu; Mu, Mingdao; Liao, Yijun; Zhou, Daizhan; Song, Pengkun; Wang, Chunrong; Men ..., Human Molecular Genetics, 2012
A variety of conditions lead to anemia, which affects one-quarter of the world's population. Previous genome-wide association studies revealed a number of genetic polymorphisms significantly associated with plasma iron status. To evaluate the association of genetic variants in genes involved ...
Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density
01-04-2012 | Xiao, Su-Mei; Kung, Annie Wai Chee; Gao, Yi; Lau, Kam-Shing; Ma, Alvin; Zhang, Zhen-Lin; Liu, Jian-Min; Xia, Wiebo; ..., Human Molecular Genetics, 2012
Our previous genome-wide association study (GWAS) in a Hong Kong Southern Chinese population with extreme bone mineral density (BMD) scores revealed suggestive association with MPP7, which ranked second after JAG1 as a candidate gene for BMD. To follow-up this suggestive signal, we ...
Population-specific coding variant underlies genome-wide association with adiponectin level
15-01-2012 | Croteau-Chonka, Damien C.; Wu, Ying; Li, Yun; Fogarty, Marie P.; Lange, Leslie A.; Kuzawa, Christopher W.; McDade, T ..., Human Molecular Genetics, 2012
Adiponectin is a protein hormone that can affect major metabolic processes including glucose regulation and fat metabolism. Our previous genome-wide association (GWA) study of circulating plasma adiponectin levels in Filipino women from the Cebu Longitudinal Health and Nutrition Survey ...
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila
01-01-2012 | McGurk, Leeanne; Bonini, Nancy M., Human Molecular Genetics, 2012
Spinocerebellar ataxia 3 (SCA3) is the most common autosomal dominant ataxia. The disease is caused by an expansion of a CAG-trinucelotide repeat region within the coding sequence of the ATXN3 gene, and this results in an expanded polyglutamine (polyQ) tract within the Ataxin-3 protein. The ...
Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function
01-09-2011 | Kabaeva, Z., Meekhof, K. E., Michele, D. E., Human Molecular Genetics, 2011
The abnormal glycosylation and loss of extracellular matrix receptor function of the protein dystroglycan (DG) lead to the development of muscular dystrophy and cardiomyopathy. Dystroglycan is an important receptor for extracellular matrix proteins, such as laminin, in the basement membrane ...
Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease
01-06-2011 | Gaughwin, Philip Michael; Ciesla, Maciej; Lahiri, Nayana; Tabrizi, Sarah J.; Brundin, Patrik; Björkqvist, Maria, Human Molecular Genetics, 2011
Huntington's disease (HD) is a devastating, neurodegenerative condition, which lacks effective treatment. Normal Huntingtin (HTT) and mutant Huntingtin (mHTT) are expressed in multiple tissues and can alter transcription of microRNAs (miRs). Importantly, miRs are present in a bio-stable form ...
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 ...
Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice
01-04-2011 | Kim, Michelle H.; Kay, Danielle I.; Rudra, Renuka T.; Chen, Bo Ming; Hsu, Nigel; Izumiya, Yasuhiro; Martinez, Leonel ..., Human Molecular Genetics, 2011
Duchenne muscular dystrophy, the most common form of childhood muscular dystrophy, is caused by X-linked inherited mutations in the dystrophin gene. Dystrophin deficiencies result in the loss of the dystrophin–glycoprotein complex at the plasma membrane, which leads to structural instability ...
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