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1,237 Newest Publications in human molecular genetics
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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
15-05-2013 | Anath C. Lionel; Andrea K. Vaags; Daisuke Sato; Matthew J. Gazzellone; Elyse B. Mitchell; Hong Yang Chen; Gregory Co ..., Human Molecular Genetics, 2013
The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic membrane, responsible for the clustering and localization of glycine and GABA receptors at inhibitory synapses. Gephyrin has well-established functional links with several synaptic proteins that have ...
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus
15-05-2013 | Rachel J. Watkins; Rajashree Patil; Benjamin T. Goult; Mervyn G. Thomas; Irene Gottlob; Sue Shackleton, Human Molecular Genetics, 2013
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in the FRMD7 gene that encodes a FERM domain protein. FRMD7 is expressed in the brain and knock-down studies suggest it plays a role in neurite extension through ...
Absolute pitch exhibits phenotypic and genetic overlap with synesthesia
15-05-2013 | Peter K. Gregersen; Elena Kowalsky; Annette Lee; Simon Baron-Cohen; Simon E. Fisher; Julian E. Asher; David Ballard; ..., Human Molecular Genetics, 2013
Absolute pitch (AP) and synesthesia are two uncommon cognitive traits that reflect increased neuronal connectivity and have been anecdotally reported to occur together in an individual. Here we systematically evaluate the occurrence of synesthesia in a population of 768 subjects with ...
Astroglial FMRP-dependent translational down-regulation of mGluR5 underlies glutamate transporter GLT1 dysregulation in the fragile X mouse
15-05-2013 | Haruki Higashimori; Lydie Morel; James Huth; Lothar Lindemann; Chris Dulla; Amaro Taylor; Mike Freeman; Yongjie Yang, Human Molecular Genetics, 2013
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the loss-of-function of fragile X mental retardation protein (FMRP). The loss of FMRP function in neurons abolishes its suppression on mGluR1/5-dependent dendritic protein translation, enhancing mGluR1/5-dependent synaptic ...
Genetic variation associated with circulating monocyte count in the eMERGE Network
15-05-2013 | David R. Crosslin; Andrew McDavid; Noah Weston; Xiuwen Zheng; Eugene Hart; Mariza de Andrade; Iftikhar J. Kullo; Cat ..., Human Molecular Genetics, 2013
With white blood cell count emerging as an important risk factor for chronic inflammatory diseases, genetic associations of differential leukocyte types, specifically monocyte count, are providing novel candidate genes and pathways to further investigate. Circulating monocytes play a ...
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d’étude des Tumeurs Endocrines (GTE) cohort study
15-05-2013 | Julien Thevenon; Abderrahmane Bourredjem; Laurence Faivre; Catherine Cardot-Bauters; Alain Calender; Arnaud Murat; S ..., Human Molecular Genetics, 2013
Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype–phenotype studies have so far failed to identify any statistical correlations, ...
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
15-05-2013 | Zafar Iqbal; Geert Vandeweyer; Monique van der Voet; Ali Muhammad Waryah; Muhammad Yasir Zahoor; Judith A. Besseling ..., Human Molecular Genetics, 2013
AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated in bipolar disorder and schizophrenia by association studies. Most recently, de novo missense mutations in this gene were identified in autistic patients. However, the ...
Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation
15-05-2013 | Andrew J. Streets; Oliver Wessely; Dorien J.M. Peters; Albert C.M. Ong, Human Molecular Genetics, 2013
Mutations in PKD1 (85%) or PKD2 (15%) account for almost all cases of autosomal dominant polycystic kidney disease (ADPKD). The ADPKD proteins, termed as polycystin-1 (PC1) and polycystin-2 (PC2), interact via their C-termini to form a receptor–ion channel complex whose function and ...
TFEB regulates lysosomal proteostasis
15-05-2013 | Wensi Song; Fan Wang; Marzia Savini; Ashley Ake; Alberto di Ronza; Marco Sardiello; Laura Segatori, Human Molecular Genetics, 2013
Loss-of-function diseases are often caused by destabilizing mutations that lead to protein misfolding and degradation. Modulating the innate protein homeostasis (proteostasis) capacity may lead to rescue of native folding of the mutated variants, thereby ameliorating the disease phenotype. ...
The 3′ UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse
15-05-2013 | Samantha Zongaro; Renate Hukema; Simona D'Antoni; Laetitia Davidovic; Pascal Barbry; Maria Vincenza Catania; Rob Wil ..., Human Molecular Genetics, 2013
While FMR1 is silenced in Fragile X syndrome (FXS) patients carrying the full mutation, its expression is elevated (2–8 fold) in premutated individuals. These people may develop the Fragile X-associated Tremor/Ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by ...
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