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19.155 Aktuelle Fachpublikationen zum Thema Addition

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Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor

15.07.2015 | Wenche Kristiansen; Robert Karlsson; Trine B. Rounge; Thomas Whitington; Bettina K. Andreassen; Patrik K. Magnusson; ..., Human Molecular Genetics, 2015

Genome-wide association (GWA) studies have reported 19 distinct susceptibility loci for testicular germ cell tumor (TGCT). A GWA study for TGCT was performed by genotyping 610 240 single-nucleotide polymorphisms (SNPs) in 1326 cases and 6687 controls from Sweden and Norway. No novel genome-wide ...

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Astrocytes influence the severity of spinal muscular atrophy

15.07.2015 | Hansjörg Rindt; Zhihua Feng; Chiara Mazzasette; Jacqueline J. Glascock; David Valdivia; Noah Pyles; Thomas O. Crawfo ..., Human Molecular Genetics, 2015

Systemically low levels of survival motor neuron-1 (SMN1) protein cause spinal muscular atrophy (SMA). α-Motor neurons of the spinal cord are considered particularly vulnerable in this genetic disorder and their dysfunction and loss cause progressive muscle weakness, paralysis and eventually ...

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Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability

15.07.2015 | Chi-Ting Su; Jenq-Wen Huang; Chih-Kang Chiang; Elizabeth C. Lawrence; Kara L. Levine; Branka Dabovic; Christine Jung ..., Human Molecular Genetics, 2015

Mutations in the gene for the latent transforming growth factor beta binding protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C. To understand the molecular disease mechanisms of this disease, we investigated the impact of LTBP4 loss on transforming growth factor beta (TGFβ) ...

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Sialidases as regulators of bioengineered cellular surfaces

01.07.2015 | Cristina Y Zamora; Matthew J Ryan; Marc d'Alarcao; Krishna Kumar, Glycobiology , 2015

Human sialidases (NEUs) catalyze the removal of N-acetyl neuraminic acids from the glycome of the cell and regulate a diverse repertoire of nominal cellular functions, such as cell signaling and adhesion. A greater understanding of their substrate permissivity is of interest in order to discern ...

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Heparosan-glucuronate 5-epimerase: Molecular cloning and characterization of a novel enzyme

01.07.2015 | Hideo Mochizuki; Kiwamu Yamagishi; Kiyoshi Suzuki; Yeong Shik Kim; Koji Kimata, Glycobiology , 2015

Iduronic acid (IdoA) is a critical component of heparan sulfate in its interaction with functional proteins. Heparosan-N-sulfate-glucuronate 5-epimerase (HNSG-5epi) converts d-glucuronic acid (GlcA) residues in N-sulfated heparosan (NS-heparosan), as an intermediate in heparan sulfate ...

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Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane

01.07.2015 | Takako Yoshida-Moriguchi; Kevin P Campbell, Glycobiology , 2015

Associations between cells and the basement membrane are critical for a variety of biological events including cell proliferation, cell migration, cell differentiation and the maintenance of tissue integrity. Dystroglycan is a highly glycosylated basement membrane receptor, and is involved in ...

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Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

01.07.2015 | Vinod Sundaramoorthy; Adam K. Walker; Vanessa Tan; Jennifer A. Fifita; Emily P. Mccann; Kelly L. Williams; Ian P. Bl ..., Human Molecular Genetics, 2015

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder primarily affecting motor neurons. Mutations in optineurin cause a small proportion of familial ALS cases, and wild-type (WT) optineurin is misfolded and forms inclusions in sporadic ALS patient motor neurons. However, it ...

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Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

01.07.2015 | David Kavanagh; Yi Yu; Elizabeth C. Schramm; Michael Triebwasser; Erin K. Wagner; Soumya Raychaudhuri; Mark J. Daly; ..., Human Molecular Genetics, 2015

To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by ...

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SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

01.07.2015 | Sara E. Gombash; Christopher J. Cowley; Julie A. Fitzgerald; Chitra C. Iyer; David Fried; Vicki L. McGovern; Kent C. ..., Human Molecular Genetics, 2015

The 2007 Consensus Statement for Standard of Care in Spinal Muscular Atrophy (SMA) notes that patients suffer from gastroesophageal reflux, constipation and delayed gastric emptying. We used two mouse models of SMA to determine whether functional GI complications are a direct consequence of or ...

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The Ll.LtrB intron from Lactococcus lactis excises as circles in vivo: insights into the group II intron circularization pathway [ARTICLES]

01.07.2015 | Caroline Monat; Cecilia Quiroga; Felix Laroche-Johnston; Benoit Cousineau, RNA, 2015

Group II introns are large ribozymes that require the assistance of intron-encoded or free-standing maturases to splice from their pre-mRNAs in vivo. They mainly splice through the classical branching pathway, being released as RNA lariats. However, group II introns can also splice through ...

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