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1,190 Newest Publications in human molecular genetics
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Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster
15-04-2011 | Del Greco M., Fabiola; Pattaro, Cristian; Luchner, Andreas; Pichler, Irene; Winkler, Thomas; Hicks, Andrew A.; Fuchs ..., Human Molecular Genetics, 2011
High blood concentration of the N-terminal cleavage product of the B-type natriuretic peptide (NT-proBNP) is strongly associated with cardiac dysfunction and is increasingly used for heart failure diagnosis. To identify genetic variants associated with NT-proBNP level, we performed a ...
Neutral mitochondrial heteroplasmy and the influence of aging
15-04-2011 | Sondheimer, Neal; Glatz, Catherine E.; Tirone, Jack E.; Deardorff, Matthew A.; Krieger, Abba M.; Hakonarson, Hakon, Human Molecular Genetics, 2011
The development and maintenance of mitochondrial heteroplasmy has important consequences for both health and heredity. Previous studies using pathogenic mutations have shown considerable variability between maternally related individuals and studies of several D-loop polymorphisms have ...
The effects of EBV transformation on gene expression levels and methylation profiles
15-04-2011 | Çalışkan, Minal; Cusanovich, Darren A.; Ober, Carole; Gilad, Yoav, Human Molecular Genetics, 2011
Epstein–Barr virus (EBV) transformed lymphoblastoid cell lines (LCLs) provide a conveniently accessible and renewable resource for functional genomic studies in humans. The ability to accumulate multidimensional data pertaining to the same individual cell lines, from complete genomic ...
Premature death and neurologic abnormalities in transgenic mice expressing a mutant huntingtin exon-2 fragment
15-04-2011 | Tebbenkamp, Andrew T.N.; Swing, Debbie; Tessarollo, Lino; Borchelt, David R., Human Molecular Genetics, 2011
Huntington's disease (HD) is a fatal neurodegenerative disease characterized pathologically by aggregates composed of N-terminal fragments of the mutant form of the protein huntingtin (htt). The role of these N-terminal fragments in disease pathogenesis has been questioned based in part on ...
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
15-04-2011 | Pretorius, Pamela R.; Aldahmesh, Mohammed A.; Alkuraya, Fowzan S.; Sheffield, Val C.; Slusarski, Diane C., Human Molecular Genetics, 2011
Bardet–Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in BBS3, a known BBS gene. The mutation in BBS3 encodes a single amino acid change at ...
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
15-04-2011 | Pyott, Shawna M.; Schwarze, Ulrike; Christiansen, Helena E.; Pepin, Melanie G.; Leistritz, Dru F.; Dineen, Richard; ..., Human Molecular Genetics, 2011
Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis–trans isomerase B (PPIB) genes result in phenotypes that range from lethal in the perinatal period to severe deforming osteogenesis imperfecta (OI). These ...
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia
15-04-2011 | Cheishvili, David; Maayan, Channa; Cohen-Kupiec, Rachel; Lefler, Sharon; Weil, Miguel; Ast, Gil; Razin, Aharon, Human Molecular Genetics, 2011
Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role player in transcriptional elongation being a subunit of the RNAPII transcriptional Elongator ...
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia
15-04-2011 | Kasher, Paul R.; Namavar, Yasmin; van Tijn, Paula; Fluiter, Kees; Sizarov, Aleksander; Kamermans, Maarten; Grierson, ..., Human Molecular Genetics, 2011
Pontocerebellar hypoplasia (PCH) represents a group (PCH1–6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. The majority of PCH2 and ...
APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome
15-04-2011 | Trazzi, Stefania; Mitrugno, Valentina Maria; Valli, Emanuele; Fuchs, Claudia; Rizzi, Simona; Guidi, Sandra; Perini, ..., Human Molecular Genetics, 2011
Mental retardation in Down syndrome (DS) appears to be related to severe neurogenesis impairment during critical phases of brain development. Recent lines of evidence in the cerebellum of a mouse model for DS (the Ts65Dn mouse) have shown a defective responsiveness to Sonic Hedgehog (Shh), a ...
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer
15-04-2011 | Aza-Carmona, Miriam; Shears, Debbie J.; Yuste-Checa, Patricia; Barca-Tierno, Verónica; Hisado-Oliva, Alfonso; Belinc ..., Human Molecular Genetics, 2011
SHOX (short stature homeobox-containing gene) encodes a transcription factor implicated in skeletal development. SHOX haploinsufficiency has been demonstrated in Leri–Weill dyschondrosteosis (LWD), a skeletal dysplasia associated with disproportionate short stature, as well as in a variable ...
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