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6,613 Newest Publications about the topic mutations
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Microbial Variome Database: Point Mutations, Adaptive or Not, in Bacterial Core Genomes
01-06-2013 | Sujay Chattopadhyay; Fred Taub; Sandip Paul; Scott J. Weissman; Evgeni V. Sokurenko, Molecular Biology and Evolution, 2013
Analysis of genetic differences (gene presence/absence and nucleotide polymorphisms) among strains of a bacterial species is crucial to understanding molecular mechanisms of bacterial pathogenesis and selecting targets for novel antibacterial therapeutics. However, lack of genome-wide ...
Prevalence of Multinucleotide Replacements in Evolution of Primates and Drosophila
01-06-2013 | Nadezhda V. Terekhanova; Georgii A. Bazykin; Alexey Neverov; Alexey S. Kondrashov; Vladimir B. Seplyarskiy, Molecular Biology and Evolution, 2013
Evolution of sequences mostly involves independent changes at different sites. However, substitutions at neighboring sites may co-occur as multinucleotide replacement events (MNRs). Here, we compare noncoding sequences of several species of primates, and of three species of Drosophila fruit ...
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 ...
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. ...
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited {alpha}-synuclein accumulation and age-dependent sensorimotor deficits
15-05-2013 | Patrick J. Schultheis; Sheila M. Fleming; Amy K. Clippinger; Jada Lewis; Taiji Tsunemi; Benoit Giasson; Dennis W. Di ..., Human Molecular Genetics, 2013
Mutations in ATP13A2 (PARK9), encoding a lysosomal P-type ATPase, are associated with both Kufor–Rakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL). KRS has recently been classified as a rare genetic form of Parkinson's disease (PD), whereas NCL is a lysosomal storage disorder. ...
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
15-05-2013 | Dusanka Milenkovic; Stanka Matic; Inge Kühl; Benedetta Ruzzenente; Christoph Freyer; Elisabeth Jemt; Chan Bae Park; ..., Human Molecular Genetics, 2013
Replication of the mammalian mitochondrial DNA (mtDNA) is dependent on the minimal replisome, consisting of the heterotrimeric mtDNA polymerase (POLG), the hexameric DNA helicase TWINKLE and the tetrameric single-stranded DNA-binding protein (mtSSB). TWINKLE has been shown to unwind DNA ...
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