Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia.

abstract：:During postnatal development, neuronal activity controls the remodeling of initially imprecise neuronal connections through the regulation of gene expression. MeCP2 binds to methylated DNA and modulates gene expression during neuronal development and MECP2 mutation causes the autistic disorder Rett syndrome. To invest...

journal_title：Human molecular genetics

authors： Lee W,Yun JM,Woods R,Dunaway K,Yasui DH,Lasalle JM,Gong Q

更新日期：2014-12-01 00:00:00

abstract：:Proteins with iron-sulfur (Fe-S) clusters participate in multiple metabolic pathways throughout the cell. The mitochondrial ABC half-transporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functional ortholog of yeast Atm1p and is predicted to export a mitochondrially derived m...

journal_title：Human molecular genetics

authors： Pondarré C,Antiochos BB,Campagna DR,Clarke SL,Greer EL,Deck KM,McDonald A,Han AP,Medlock A,Kutok JL,Anderson SA,Eisenstein RS,Fleming MD

更新日期：2006-03-15 00:00:00

abstract：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

journal_title：Human molecular genetics

authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

更新日期：2010-10-15 00:00:00

abstract：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results f...

journal_title：Human molecular genetics

authors： Shelbourne PF,Keller-McGandy C,Bi WL,Yoon SR,Dubeau L,Veitch NJ,Vonsattel JP,Wexler NS,US-Venezuela Collaborative Research Group.,Arnheim N,Augood SJ

更新日期：2007-05-15 00:00:00

abstract：:Our fundamental understanding of how several thousand diverse RNAs are recognized in the soma, sorted, packaged, transported and localized within the cell is fragmentary. The COPa and COPb proteins of the coatomer protein I (COPI) vesicle complex were reported to interact with specific RNAs and represent a candidate R...

journal_title：Human molecular genetics

authors： Todd AG,Lin H,Ebert AD,Liu Y,Androphy EJ

更新日期：2013-02-15 00:00:00

abstract：:Primary aldosteronism (PA, autonomous aldosterone production from the adrenal cortex) causes the most common form of secondary arterial hypertension (HT), which is also the most common curable form of HT. Recent studies have highlighted an important role of mutations in genes encoding potassium channels in the pathoge...

journal_title：Human molecular genetics

authors： El Wakil A,Bandulik S,Guy N,Bendahhou S,Zennaro MC,Niehrs C,Mari B,Warth R,Barhanin J,Lalli E

更新日期：2012-11-15 00:00:00

abstract：:Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon. AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cau...

journal_title：Human molecular genetics

authors： Ealing J,Webster R,Brownlow S,Abdelgany A,Oosterhuis H,Muntoni F,Vaux DJ,Vincent A,Beeson D

更新日期：2002-11-15 00:00:00

abstract：:LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommo...

journal_title：Human molecular genetics

authors： Garcia-Perez JL,Marchetto MC,Muotri AR,Coufal NG,Gage FH,O'Shea KS,Moran JV

更新日期：2007-07-01 00:00:00

abstract：:Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oli...

journal_title：Human molecular genetics

authors： Longo F,Benedetti S,Zambon AA,Sora MGN,Di Resta C,De Ritis D,Quattrini A,Maltecca F,Ferrari M,Previtali SC

更新日期：2020-01-15 00:00:00

abstract：:Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci have been mapped to the chromosomal positions 14q11.2-q24.3 (SPG3), 2p21-p24 (SPG4) and 15q11.1 (SPG6). The repeat expansion detection (RED) method has been used t...

journal_title：Human molecular genetics

authors： Benson KF,Horwitz M,Wolff J,Friend K,Thompson E,White S,Richards RI,Raskind WH,Bird TD

更新日期：1998-10-01 00:00:00

abstract：:This study provides first insights into the biosynthesis, structure, biochemistry and complex processing of the proteins encoded by hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID (NOT) and the yeast asparagine linked glycosylation 3 gene (ALG3), which encodes a mannosyltransferase. Unambiguous evi...

journal_title：Human molecular genetics

authors： Hacker B,Schultheiß C,Kurzik-Dumke U

更新日期：2018-12-15 00:00:00

abstract：:Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in multiple pathways, including RNA metabolism and splicing as well as motoneuron development and function. Here we provide evidence for a major contribut...

journal_title：Human molecular genetics

authors： Nölle A,Zeug A,van Bergeijk J,Tönges L,Gerhard R,Brinkmann H,Al Rayes S,Hensel N,Schill Y,Apkhazava D,Jablonka S,O'mer J,Srivastav RK,Baasner A,Lingor P,Wirth B,Ponimaskin E,Niedenthal R,Grothe C,Claus P

更新日期：2011-12-15 00:00:00

abstract：:Missense mutations (K141N and K141E) in the alpha-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is curre...

journal_title：Human molecular genetics

authors： Irobi J,Almeida-Souza L,Asselbergh B,De Winter V,Goethals S,Dierick I,Krishnan J,Timmermans JP,Robberecht W,De Jonghe P,Van Den Bosch L,Janssens S,Timmerman V

更新日期：2010-08-15 00:00:00

abstract：:By GenBank database searches and PCR, we have identified a novel human Bcl2-like gene, Bcl2-L-10, which contains conserved BH4, BH1 and BH2 domains but lacks BH3 domain. The Bcl2-L-10 gene has been assigned to chromosome 15q21.2. Transfection experiments demonstrated that Bcl2-L-10 can block apoptosis induced by inter...

journal_title：Human molecular genetics

authors： Zhang H,Holzgreve W,De Geyter C

更新日期：2001-10-01 00:00:00

abstract：:We, amongst others, have shown that CC homozygosity at the -22C>T promoter polymorphism in presenilin 1 (PSEN1) is associated with increased risk for Alzheimer's disease (AD). Also, studies in AD brains suggested that CC homozygosity increased the risk for AD by increasing the Abeta load. We characterized the PSEN1 pr...

journal_title：Human molecular genetics

authors： Theuns J,Remacle J,Killick R,Corsmit E,Vennekens K,Huylebroeck D,Cruts M,Van Broeckhoven C

更新日期：2003-04-15 00:00:00

abstract：:There has been substantial progress in psychiatric genetics in recent years, through collaborative efforts to build large samples sizes for case/control analyses for a number of psychiatric disorders. The identification of replicated trait-associated genomic loci represents a large stride forward in a field where litt...

journal_title：Human molecular genetics

authors： Hodgson K,McGuffin P,Lewis CM

更新日期：2017-10-01 00:00:00

abstract：:Dysregulation of Fused in Sarcoma (FUS) gene expression is associated with fronto-temporal lobar degeneration (FTLD), and missense mutations in the FUS gene have been identified in patients affected by amyotrophic lateral sclerosis (ALS). However, molecular and cellular defects underlying FUS proteinopathy remain to b...

journal_title：Human molecular genetics

authors： Chen Y,Deng J,Wang P,Yang M,Chen X,Zhu L,Liu J,Lu B,Shen Y,Fushimi K,Xu Q,Wu JY

更新日期：2016-12-01 00:00:00

abstract：:Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNA...

journal_title：Human molecular genetics

authors： Haer-Wigman L,Newman H,Leibu R,Bax NM,Baris HN,Rizel L,Banin E,Massarweh A,Roosing S,Lefeber DJ,Zonneveld-Vrieling MN,Isakov O,Shomron N,Sharon D,Den Hollander AI,Hoyng CB,Cremers FP,Ben-Yosef T

更新日期：2015-07-01 00:00:00

abstract：:Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P-values in two previously published genome-wide scans that included a total of 2961 ESCC cases...

journal_title：Human molecular genetics

authors： Abnet CC,Wang Z,Song X,Hu N,Zhou FY,Freedman ND,Li XM,Yu K,Shu XO,Yuan JM,Zheng W,Dawsey SM,Liao LM,Lee MP,Ding T,Qiao YL,Gao YT,Koh WP,Xiang YB,Tang ZZ,Fan JH,Chung CC,Wang C,Wheeler W,Yeager M,Yuenger

更新日期：2012-05-01 00:00:00

abstract：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

journal_title：Human molecular genetics

authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

更新日期：2006-02-15 00:00:00

abstract：:The diastrophic dysplasia sulfate transporter (DTDST) gene encodes a transmembrane protein that transports sulfate into chondrocytes to maintain adequate sulfation of proteoglycans. Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epip...

journal_title：Human molecular genetics

authors： Karniski LP

更新日期：2001-07-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is a complex congenital syndrome caused by a monoallelic deletion of the short arm of chromosome 4. Seizures in WHS have been associated with deletion of LETM1 gene. LETM1 encodes for the human homologue of yeast Mdm38p, a mitochondria-shaping protein of unclear function. Here we show th...

journal_title：Human molecular genetics

authors： Dimmer KS,Navoni F,Casarin A,Trevisson E,Endele S,Winterpacht A,Salviati L,Scorrano L

更新日期：2008-01-15 00:00:00

abstract：:Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members of the same family. PCC families included a large, unique pedigree (...

journal_title：Human molecular genetics

authors： Rogaev EI,Rogaeva EA,Korovaitseva GI,Farrer LA,Petrin AN,Keryanov SA,Turaeva S,Chumakov I,St George-Hyslop P,Ginter EK

更新日期：1996-05-01 00:00:00

abstract：:The genes of the piwi family are defined by conserved PAZ and Piwi domains and play important roles in stem-cell self-renewal, RNA silencing and translational regulation in various organisms. Both, mouse and human Piwil2 genes, members of the piwi gene family, are specifically expressed in testis. We report here enhan...

journal_title：Human molecular genetics

authors： Lee JH,Schütte D,Wulf G,Füzesi L,Radzun HJ,Schweyer S,Engel W,Nayernia K

更新日期：2006-01-15 00:00:00

abstract：:Meta-analysis of genome-wide association studies has resulted in the identification of hundreds of genetic variants associated with growth and stature. Determining how these genetic variants influence growth is important, but most are non-coding, and there is little understanding of how these variants contribute to ad...

journal_title：Human molecular genetics

authors： Schierding W,Antony J,Cutfield WS,Horsfield JA,O'Sullivan JM

更新日期：2016-08-01 00:00:00

abstract：:Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determ...

journal_title：Human molecular genetics

authors： Petty LE,Highland HM,Gamazon ER,Hu H,Karhade M,Chen HH,de Vries PS,Grove ML,Aguilar D,Bell GI,Huff CD,Hanis CL,Doddapaneni H,Munzy DM,Gibbs RA,Ma J,Parra EJ,Cruz M,Valladares-Salgado A,Arking DE,Barbeira A,Im HK

更新日期：2019-04-01 00:00:00

abstract：:Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. Neurobehavioral studies determined that ∼70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). We ...

journal_title：Human molecular genetics

authors： Lacaria M,Spencer C,Gu W,Paylor R,Lupski JR

更新日期：2012-07-15 00:00:00

abstract：:Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition. Over 90% of NBS patients are homozygous for the 657Delta5 mutation and are of Slavic origin; however, 1...

journal_title：Human molecular genetics

authors： Varon R,Dutrannoy V,Weikert G,Tanzarella C,Antoccia A,Stöckl L,Spadoni E,Krüger LA,di Masi A,Sperling K,Digweed M,Maraschio P

更新日期：2006-03-01 00:00:00

abstract：:A susceptibility locus for coronary artery disease (CAD) at chromosome 9p21 has recently been reported, which may influence the age of onset of CAD. We sought to replicate these findings among white subjects and to examine whether these results are consistent with other racial/ethnic groups by genotyping three single ...

journal_title：Human molecular genetics

authors： Assimes TL,Knowles JW,Basu A,Iribarren C,Southwick A,Tang H,Absher D,Li J,Fair JM,Rubin GD,Sidney S,Fortmann SP,Go AS,Hlatky MA,Myers RM,Risch N,Quertermous T

更新日期：2008-08-01 00:00:00

abstract：:To determine factors governing triplet repeat expansion at FMR1, we need to understand the basis of normal variation. We have sequenced the FMR1 repeat from 102 normal X chromosomes and show that most are interrupted with a regularly spaced AGG trinucleotide giving an ordered structure to the array. Five types of arra...

journal_title：Human molecular genetics

authors： Hirst MC,Grewal PK,Davies KE

更新日期：1994-09-01 00:00:00