FGFR2 regulates Mre11 expression and double-strand break repair via the MEK-ERK-POU1F1 pathway in breast tumorigenesis.

abstract：:Mutations in the survival motor neuron (SMN1) gene lead to the neuromuscular disease spinal muscular atrophy (SMA). Although SMA is primarily considered as a motor neuron disease, the importance of muscle defects in its pathogenesis has not been fully examined. We use both primary cell culture and two different SMA mo...

journal_title：Human molecular genetics

authors： Boyer JG,Deguise MO,Murray LM,Yazdani A,De Repentigny Y,Boudreau-Larivière C,Kothary R

更新日期：2014-08-15 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a genetic disorder characterized by loss of motor neurons in the spinal cord leading to muscle atrophy and death. Although motor neurons (MNs) are the most obviously affected cells in SMA, recent evidence suggest dysfunction in multiple cell types. Astrocytes are a crucial component of...

journal_title：Human molecular genetics

authors： Patitucci TN,Ebert AD

更新日期：2016-02-01 00:00:00

abstract：:We performed a genome-wide scan for susceptibility loci in bipolar disorder in a study sample colleted from the isolated Finnish population, consisting of 41 families with at least two affected siblings. We identified one distinct locus on 16p12 providing significant evidence for linkage in two-point analysis (Z(max)=...

journal_title：Human molecular genetics

authors： Ekholm JM,Kieseppä T,Hiekkalinna T,Partonen T,Paunio T,Perola M,Ekelund J,Lönnqvist J,Pekkarinen-Ijäs P,Peltonen L

更新日期：2003-08-01 00:00:00

abstract：:Ribonuclease H2 plays an essential role for genome stability as it removes ribonucleotides misincorporated into genomic DNA by replicative polymerases and resolves RNA/DNA hybrids. Biallelic mutations in the genes encoding the three RNase H2 subunits cause Aicardi-Goutières syndrome (AGS), an early-onset inflammatory ...

journal_title：Human molecular genetics

authors： Kind B,Muster B,Staroske W,Herce HD,Sachse R,Rapp A,Schmidt F,Koss S,Cardoso MC,Lee-Kirsch MA

更新日期：2014-11-15 00:00:00

abstract：:Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation of α-GalA substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine. Progressive glycolipid storage results in cellular ...

journal_title：Human molecular genetics

authors： Welford RWD,Mühlemann A,Garzotti M,Rickert V,Groenen PMA,Morand O,Üçeyler N,Probst MR

更新日期：2018-10-01 00:00:00

abstract：:Genomic imprinting is a phenomenon that causes parent-origin-specific monoallelic expression of a small subset of genes, known as imprinted genes, by parentally inherited epigenetic marks. Imprinted genes at the delta-like homolog 1 gene (Dlk1)-type III iodothyronine deiodinase gene (Dio3) imprinted domain, regulated ...

journal_title：Human molecular genetics

authors： Saito T,Hara S,Kato T,Tamano M,Muramatsu A,Asahara H,Takada S

更新日期：2018-09-15 00:00:00

abstract：:Linkage, association and postmortem studies have implicated regulator of G-protein signaling 4 (RGS4), which negatively modulates signal transduction at G-protein-coupled receptors, as a candidate schizophrenia susceptibility gene. We compared RGS4 mRNA expression in the dorsolateral prefrontal cortex (DLPFC), between...

journal_title：Human molecular genetics

authors： Lipska BK,Mitkus S,Caruso M,Hyde TM,Chen J,Vakkalanka R,Straub RE,Weinberger DR,Kleinman JE

更新日期：2006-09-15 00:00:00

abstract：:Mutations at a single locus, PKHD1, are responsible for causing human autosomal recessive polycystic kidney disease (ARPKD). Recent studies suggest that the cystic disease might result from defects in planar cell polarity, but how the 4074 amino acid ciliary protein encoded by the longest open reading frame of this tr...

journal_title：Human molecular genetics

authors： Kaimori JY,Nagasawa Y,Menezes LF,Garcia-Gonzalez MA,Deng J,Imai E,Onuchic LF,Guay-Woodford LM,Germino GG

更新日期：2007-04-15 00:00:00

abstract：:Immunoglobulins play an essential part in the immune system, and immunoglobulin deficiencies can have profound medical consequences. The genetic control and regulation of the immunoglobulin response is therefore of interest. Previous investigations have identified a number of loci influencing total and specific IgE le...

journal_title：Human molecular genetics

authors： Wiltshire S,Bhattacharyya S,Faux JA,Leaves NI,Daniels SE,Moffatt MF,James A,Musk AW,Cookson WO

更新日期：1998-01-01 00:00:00

abstract：:Leukocyte telomere length (LTL) might be causal in cardiovascular disease and major cancers. To elucidate the roles of genetics and geography in LTL variability across humans, we compared LTL measured in 1295 sub-Saharan Africans (SSAs) with 559 African-Americans (AAms) and 2464 European-Americans (EAms). LTL differed...

journal_title：Human molecular genetics

authors： Hunt SC,Hansen MEB,Verhulst S,McQuillan MA,Beggs W,Lai TP,Mokone GG,Mpoloka SW,Meskel DW,Belay G,Nyambo TB,Abnet CC,Yeager M,Chanock SJ,Province MA,Williams SM,Aviv A,Tishkoff SA

更新日期：2020-11-04 00:00:00

abstract：:Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. Th...

journal_title：Human molecular genetics

authors： McGrath JA,Duijf PH,Doetsch V,Irvine AD,de Waal R,Vanmolkot KR,Wessagowit V,Kelly A,Atherton DJ,Griffiths WA,Orlow SJ,van Haeringen A,Ausems MG,Yang A,McKeon F,Bamshad MA,Brunner HG,Hamel BC,van Bokhoven H

更新日期：2001-02-01 00:00:00

abstract：:Valosin-containing protein (VCP)-associated disease caused by mutations in the VCP gene includes combinations of a phenotypically heterogeneous group of disorders such as hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. Currently, there are no effe...

journal_title：Human molecular genetics

authors： Llewellyn KJ,Nalbandian A,Jung KM,Nguyen C,Avanesian A,Mozaffar T,Piomelli D,Kimonis VE

更新日期：2014-03-01 00:00:00

abstract：:Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. ...

journal_title：Human molecular genetics

authors： Yang N,Wu N,Zhang L,Zhao Y,Liu J,Liang X,Ren X,Li W,Chen W,Dong S,Zhao S,Lin J,Xiang H,Xue H,Chen L,Sun H,Zhang J,Shi J,Zhang S,Lu D,Wu X,Jin L,Ding J,Qiu G,Wu Z,Lupski JR,Zhang F

更新日期：2019-02-15 00:00:00

abstract：:Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis ...

journal_title：Human molecular genetics

authors： Guo W,Murthy AC,Zhang L,Johnson EB,Schaller EG,Allan AM,Zhao X

更新日期：2012-02-01 00:00:00

abstract：:Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused by loss of function of the lysosomal channel mucolipin-1, also known as TRPML1. Knockout of the Mcoln1 gene in a mouse model mirrors clinica...

journal_title：Human molecular genetics

authors： Weinstock LD,Furness AM,Herron SS,Smith SS,Sankar SB,DeRosa SG,Gao D,Mepyans ME,Scotto Rosato A,Medina DL,Vardi A,Ferreira NS,Cho SM,Futerman AH,Slaugenhaupt SA,Wood LB,Grishchuk Y

更新日期：2018-08-01 00:00:00

abstract：:A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial group...

journal_title：Human molecular genetics

authors： Fingert JH,Héon E,Liebmann JM,Yamamoto T,Craig JE,Rait J,Kawase K,Hoh ST,Buys YM,Dickinson J,Hockey RR,Williams-Lyn D,Trope G,Kitazawa Y,Ritch R,Mackey DA,Alward WL,Sheffield VC,Stone EM

更新日期：1999-05-01 00:00:00

abstract：:Genomic data offer a goldmine of information for understanding the contribution of genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access ...

journal_title：Human molecular genetics

authors： Middleton A

更新日期：2018-05-01 00:00:00

abstract：:Recent genome-wide association studies (GWAS) have identified a number of novel genetic associations with complex human diseases. In spite of these successes, results from GWAS generally explain only a small proportion of disease heritability, an observation termed the 'missing heritability problem'. Several sources f...

journal_title：Human molecular genetics

authors： Cusanovich DA,Billstrand C,Zhou X,Chavarria C,De Leon S,Michelini K,Pai AA,Ober C,Gilad Y

更新日期：2012-05-01 00:00:00

abstract：:Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethylation, identifying these changes is important in understanding v...

journal_title：Human molecular genetics

authors： Connelly JJ,Cherepanova OA,Doss JF,Karaoli T,Lillard TS,Markunas CA,Nelson S,Wang T,Ellis PD,Langford CF,Haynes C,Seo DM,Goldschmidt-Clermont PJ,Shah SH,Kraus WE,Hauser ER,Gregory SG

更新日期：2013-12-20 00:00:00

abstract：:The identification of multiple signals at individual loci could explain additional phenotypic variance ('missing heritability') of common traits, and help identify causal genes. We examined gene expression levels as a model trait because of the large number of strong genetic effects acting in cis. Using expression pro...

journal_title：Human molecular genetics

authors： Wood AR,Hernandez DG,Nalls MA,Yaghootkar H,Gibbs JR,Harries LW,Chong S,Moore M,Weedon MN,Guralnik JM,Bandinelli S,Murray A,Ferrucci L,Singleton AB,Melzer D,Frayling TM

更新日期：2011-10-15 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP...

journal_title：Human molecular genetics

authors： Micucci JA,Layman WS,Hurd EA,Sperry ED,Frank SF,Durham MA,Swiderski DL,Skidmore JM,Scacheri PC,Raphael Y,Martin DM

更新日期：2014-01-15 00:00:00

abstract：:A relationship between fragile sites, specific genomic regions visible as gaps or breaks on cultivated chromosomes, and human disease has been proposed many years ago. Evidence for a role of the ubiquitously expressed common fragile sites characterized by peculiar genome architecture in cancer has been accumulated ove...

journal_title：Human molecular genetics

authors： Debacker K,Kooy RF

更新日期：2007-10-15 00:00:00

abstract：:Slow-channel syndrome (SCS) is a congenital myasthenic disorder caused by point mutations in subunits of skeletal muscle acetylcholine receptor leading to Ca(2+) overload and degeneration of the postsynaptic membrane, nuclei and mitochondria of the neuromuscular junction (NMJ). In both SCS muscle biopsies and transgen...

journal_title：Human molecular genetics

authors： Zhu H,Pytel P,Gomez CM

更新日期：2014-01-01 00:00:00

abstract：:Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase gene, which leads to lysosomal glycogen accumulation and enlargement of the lysosomes mainly in cardiac and muscle tissues, resulting in fatal hypertrophic cardiomyopathy and res...

journal_title：Human molecular genetics

authors： Douillard-Guilloux G,Raben N,Takikita S,Batista L,Caillaud C,Richard E

更新日期：2008-12-15 00:00:00

abstract：:Spastic paraplegia 35 (SPG35) (OMIM: 612319) or fatty acid hydroxylase-associated neurodegeneration (FAHN) is caused by deficiency of fatty acid 2-hydroxylase (FA2H). This enzyme synthesizes sphingolipids containing 2-hydroxylated fatty acids, which are particularly abundant in myelin. Fa2h-deficient (Fa2h-/-) mice de...

journal_title：Human molecular genetics

authors： Hardt R,Jordans S,Winter D,Gieselmann V,Wang-Eckhardt L,Eckhardt M

更新日期：2021-01-21 00:00:00

abstract：:Fragile X syndrome, a common form of inherited mental retardation, is caused by loss of the fragile X mental retardation protein (FMRP). As a selective RNA-binding protein, FMRP is localized predominately in cytoplasm, where it regulates translational control. However, there is a small portion of FMRP present in the n...

journal_title：Human molecular genetics

authors： Zhang W,Cheng Y,Li Y,Chen Z,Jin P,Chen D

更新日期：2014-10-01 00:00:00

abstract：:Despite extensive progress in Huntington's disease (HD) research, very little is known about the association of epigenetic variation and HD pathogenesis in human brain tissues. Moreover, its contribution to the tissue-specific transcriptional regulation of the huntingtin gene (HTT), in which HTT expression levels are ...

journal_title：Human molecular genetics

authors： De Souza RA,Islam SA,McEwen LM,Mathelier A,Hill A,Mah SM,Wasserman WW,Kobor MS,Leavitt BR

更新日期：2016-05-15 00:00:00

abstract：:In the normal diploid mouse embryo, active demethylation of the paternal genome but not of the maternal genome occurs within only a few hours and in a highly coordinated fashion as the zygote proceeds through the first G1 phase. This zygotic demethylation may be necessary to reprogram the sperm genome for somatic deve...

journal_title：Human molecular genetics

authors： Barton SC,Arney KL,Shi W,Niveleau A,Fundele R,Surani MA,Haaf T

更新日期：2001-12-15 00:00:00

abstract：:Epigenetic differences are a common feature of many diseases, including cancer, and disease-associated changes have even been detected in bodily fluids. DNA modification studies in circulating DNA (cirDNA) may lead to the development of specific non-invasive biomarkers. To test this hypothesis, we investigated cirDNA ...

journal_title：Human molecular genetics

authors： Cortese R,Kwan A,Lalonde E,Bryzgunova O,Bondar A,Wu Y,Gordevicius J,Park M,Oh G,Kaminsky Z,Tverkuviene J,Laurinavicius A,Jankevicius F,Sendorek DH,Haider S,Wang SC,Jarmalaite S,Laktionov P,Boutros PC,Petronis A

更新日期：2012-08-15 00:00:00

abstract：:Ataxia-telangiectasia (A-T) is a multisystem, cancer-predisposing genetic disorder caused by deficiency of the ATM protein. To dissect the A-T phenotype, we augmented specific features of the human disease by generating mouse strains that combine Atm deficiency with dysfunction of other proteins. Increasing oxidative ...

journal_title：Human molecular genetics

authors： Ziv S,Brenner O,Amariglio N,Smorodinsky NI,Galron R,Carrion DV,Zhang W,Sharma GG,Pandita RK,Agarwal M,Elkon R,Katzin N,Bar-Am I,Pandita TK,Kucherlapati R,Rechavi G,Shiloh Y,Barzilai A

更新日期：2005-10-01 00:00:00