Functional assessment of variants associated with Wolfram syndrome.

abstract：:Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some hav...

journal_title：Human molecular genetics

authors： Guo T,Diacou A,Nomaru H,McDonald-McGinn DM,Hestand M,Demaerel W,Zhang L,Zhao Y,Ujueta F,Shan J,Montagna C,Zheng D,Crowley TB,Kushan-Wells L,Bearden CE,Kates WR,Gothelf D,Schneider M,Eliez S,Breckpot J,Swillen A,

更新日期：2018-04-01 00:00:00

abstract：:Aberrant tau protein accumulation drives neurofibrillary tangle (NFT) formation in several neurodegenerative diseases. Currently, efforts to elucidate pathogenic mechanisms and assess the efficacy of therapeutic targets are limited by constraints of existing models of tauopathy. In order to generate a more versatile m...

journal_title：Human molecular genetics

authors： Cook C,Kang SS,Carlomagno Y,Lin WL,Yue M,Kurti A,Shinohara M,Jansen-West K,Perkerson E,Castanedes-Casey M,Rousseau L,Phillips V,Bu G,Dickson DW,Petrucelli L,Fryer JD

更新日期：2015-11-01 00:00:00

abstract：:Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology has been elusive. While common genetic variants are associated with AIS, they explain only a small portion of disease risk. To explore the role of rare variants in AIS susceptibility, exome sequence data of 391 severe AIS case...

journal_title：Human molecular genetics

authors： Haller G,Alvarado D,Mccall K,Yang P,Cruchaga C,Harms M,Goate A,Willing M,Morcuende JA,Baschal E,Miller NH,Wise C,Dobbs MB,Gurnett CA

更新日期：2016-01-01 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：:Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where ca...

journal_title：Human molecular genetics

authors： Benet-Pagès A,Orlik P,Strom TM,Lorenz-Depiereux B

更新日期：2005-02-01 00:00:00

abstract：:Understanding the biological functions of tau variants can illuminate differential etiologies of Alzheimer's disease (AD) and primary tauopathies. Though the end-stage neuropathological attributes of AD and primary tauopathies are similar, the etiology and behavioral outcomes of these diseases follow unique and diverg...

journal_title：Human molecular genetics

authors： Koller EJ,Gonzalez De La Cruz E,Machula T,Ibanez KR,Lin WL,Williams T,Riffe CJ,Ryu D,Strang KH,Liu X,Janus C,Golde TE,Dickson D,Giasson BI,Chakrabarty P

更新日期：2019-10-01 00:00:00

abstract：:We investigated the population differences in patterns of single nucleotide polymorphisms (SNPs) for a 400 kb olfactory receptor (OR) gene cluster on human chromosome 17p13.3. Samples were drawn from 35 individuals, of four different ethnogeographical origins: Pygmies, Bedouins, Yemenite Jews and Ashkenazi Jews. Of th...

journal_title：Human molecular genetics

authors： Menashe I,Man O,Lancet D,Gilad Y

更新日期：2002-06-01 00:00:00

abstract：:A functional genetic screen using loss-of-function and gain-of-function alleles was performed to identify modifiers of tau-induced neurotoxicity using the 2N/4R (full-length) isoform of wild-type human tau expressed in the fly retina. We previously reported eye pigment mutations, which create dysfunctional lysosomes, ...

journal_title：Human molecular genetics

authors： Ambegaokar SS,Jackson GR

更新日期：2011-12-15 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：:Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence su...

journal_title：Human molecular genetics

authors： Vianello S,Pantic B,Fusto A,Bello L,Galletta E,Borgia D,Gavassini BF,Semplicini C,Sorarù G,Vitiello L,Pegoraro E

更新日期：2017-09-01 00:00:00

abstract：:Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions. By means of various prog...

journal_title：Human molecular genetics

authors： Lenk U,Hanke R,Thiele H,Speer A

更新日期：1993-11-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are the two common neurodegenerative diseases that have been associated with the GGGGCC·GGCCCC repeat RNA expansion in a noncoding region of C9orf72. It has been previously reported that unconventional repeat-associated non-ATG (RAN) translation of ...

journal_title：Human molecular genetics

authors： Tao Z,Wang H,Xia Q,Li K,Li K,Jiang X,Xu G,Wang G,Ying Z

更新日期：2015-05-01 00:00:00

abstract：:Integrating single-cell RNA sequencing (scRNA-seq) data with genotypes obtained from DNA sequencing studies facilitates the detection of functional genetic variants underlying cell type-specific gene expression variation. Unfortunately, most existing scRNA-seq studies do not come with DNA sequencing data; thus, being ...

journal_title：Human molecular genetics

authors： Schnepp PM,Chen M,Keller ET,Zhou X

更新日期：2019-11-01 00:00:00

abstract：:It is now well established that the genomic landscape of DNA methylation (DNAm) gets altered as a function of age, a process we here call 'epigenetic drift'. The biological, functional, clinical and evolutionary significance of this epigenetic drift, however, remains unclear. We here provide a brief review of epigenet...

journal_title：Human molecular genetics

authors： Teschendorff AE,West J,Beck S

更新日期：2013-10-15 00:00:00

abstract：:A transcription map of the Huntington disease gene region was generated by a direct cDNA selection strategy using genomic DNA from the 4p16.3 region surrounding the D4S95 and D4S127 loci. A total of 58 cDNA fragments were obtained from cDNAs derived from fetal brain, frontal cortex, liver and bone marrow following hyb...

journal_title：Human molecular genetics

authors： Rommens JM,Lin B,Hutchinson GB,Andrew SE,Goldberg YP,Glaves ML,Graham R,Lai V,McArthur J,Nasir J

更新日期：1993-07-01 00:00:00

abstract：:We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, ind...

journal_title：Human molecular genetics

authors： Forbes JR,Cox DW

更新日期：2000-08-12 00:00:00

abstract：:Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine. Recently, we described a point mutation in hTH (Q381K) in a family of two siblings suffering from progressive L-DOPA-responsive dystonia (DRD), representing the...

journal_title：Human molecular genetics

authors： Knappskog PM,Flatmark T,Mallet J,Lüdecke B,Bartholomé K

更新日期：1995-07-01 00:00:00

abstract：:Alzheimer's disease (AD) and Parkinson's disease (PD), the two most common neurodegenerative disorders in the elderly, have been hypothesized to share genetic determinants. Recently, Li et al. proposed that a variant in the NEDD9 gene may be one of these common genetic factors. We attempted to confirm this initial obs...

journal_title：Human molecular genetics

authors： Chapuis J,Moisan F,Mellick G,Elbaz A,Silburn P,Pasquier F,Hannequin D,Lendon C,Campion D,Amouyel P,Lambert JC

更新日期：2008-09-15 00:00:00

abstract：:Huntington's disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates. Here we ask whether expanded polyQ is sufficient to cause pathology and aggregate formation. By addressing the sufficiency questi...

journal_title：Human molecular genetics

authors： Chongtham A,Bornemann DJ,Barbaro BA,Lukacsovich T,Agrawal N,Syed A,Worthge S,Purcell J,Burke J,Chin TM,Marsh JL

更新日期：2020-03-13 00:00:00

abstract：:ATRX is a chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. It also influences the expression level of specific genes; however, deposition of H3.3 at transcribed genes is currently thought to occur independently of ATRX. We focused on a se...

journal_title：Human molecular genetics

authors： Levy MA,Kernohan KD,Jiang Y,Bérubé NG

更新日期：2015-04-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps to human chromosome 11p15.5, a region that harbours a number of imprinted genes. We studied the methylation status of H19 and KCNQ1OT1 (LIT1/KvDMR1) in a large series of BWS patients. Different patient groups were identified: group I pa...

journal_title：Human molecular genetics

authors： Bliek J,Maas SM,Ruijter JM,Hennekam RC,Alders M,Westerveld A,Mannens MM

更新日期：2001-03-01 00:00:00

abstract：:The EPM2A gene, encoding the dual-phosphatase laforin, is mutated in a fatal form of progressive myoclonus epilepsy known as Lafora disease (LD). The EPM2A gene, by differential splicing of its transcripts, is known to encode two laforin isoforms having distinct carboxyl termini; a major isoform localized in the cytop...

journal_title：Human molecular genetics

authors： Dubey D,Ganesh S

更新日期：2008-10-01 00:00:00

abstract：:Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by mutations in the G6PC gene, encoding the catalytic subunit of glucose-6-phosphatase. Early symptoms include severe fasting intolerance, failure to thrive and hepatomegaly, biochemically associated with nonketotic hypoglycemia, fasting...

journal_title：Human molecular genetics

authors： Saeed A,Hoogerland JA,Wessel H,Heegsma J,Derks TGJ,van der Veer E,Mithieux G,Rajas F,Oosterveer MH,Faber KN

更新日期：2020-01-15 00:00:00

abstract：:Mutations in the human ortholog of Drosophila patched (PTCH) have been identified in patients with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), characterized by minor developmental anomalies and an increased incidence of cancers such as medulloblastoma and basal cell carcinoma. We identified many i...

journal_title：Human molecular genetics

authors： Nagao K,Togawa N,Fujii K,Uchikawa H,Kohno Y,Yamada M,Miyashita T

更新日期：2005-11-15 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：:The molecular genetic events underlying endometrial tumorigenesis are ill-defined at present. We have identified a region on the short arm of chromosome 1 which is frequently deleted in endometrial cancers. The region of deletion has been localized to bands 1p32-33. Deletion of 1p32-33 is seen more frequently in cance...

journal_title：Human molecular genetics

authors： Arlt MF,Herzog TJ,Mutch DG,Gersell DJ,Liu H,Goodfellow PJ

更新日期：1996-07-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein. Studies involving SMA patients and animal models expressing the human SMN2 gene have yielded relatively little information about the earliest cellular consequences of ...

journal_title：Human molecular genetics

authors： Kariya S,Park GH,Maeno-Hikichi Y,Leykekhman O,Lutz C,Arkovitz MS,Landmesser LT,Monani UR

更新日期：2008-08-15 00:00:00

abstract：:The gene encoding heterogeneous ribonucleoprotein (hnRNP) G recently has been mapped to the X chromosome. All mammals have a Y chromosome-encoded homologue of HNRNP G called RBMY, which is implicated with a role in male fertility and is a candidate for the azoospermia factor gene. We have identified a new member of th...

journal_title：Human molecular genetics

authors： Elliott DJ,Venables JP,Newton CS,Lawson D,Boyle S,Eperon IC,Cooke HJ

更新日期：2000-09-01 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. S...

journal_title：Human molecular genetics

authors： Dutly F,Schinzel A

更新日期：1996-12-01 00:00:00

abstract：:Convergent extension (CE) is a fundamental morphogenetic mechanism that underlies numerous processes in vertebrate development, and its disruption can lead to human congenital disorders such as neural tube closure defects. The dynamic, oriented cell intercalation during CE is regulated by a group of core proteins iden...

journal_title：Human molecular genetics

authors： Seo HS,Habas R,Chang C,Wang J

更新日期：2017-06-01 00:00:00