Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone.

abstract：:The mammalian Sonic hedgehog (Shh) signalling pathway is essential for embryonic development and the patterning of multiple organs. Disruption or activation of Shh signalling leads to multiple birth defects, including holoprosencephaly, neural tube defects and polydactyly, and in adults results in tumours of the skin ...

journal_title：Human molecular genetics

authors： Patterson VL,Damrau C,Paudyal A,Reeve B,Grimes DT,Stewart ME,Williams DJ,Siggers P,Greenfield A,Murdoch JN

更新日期：2009-05-15 00:00:00

abstract：:Choroideremia (CHM) is an X-linked progressive eye disorder which results from defects in the human Rab escort protein-1 (REP-1) gene. A gene targeting approach was used to disrupt the mouse chm/rep-1 gene. Chimeric males transmitted the mutated gene to their carrier daughters but, surprisingly, these heterozygous fem...

journal_title：Human molecular genetics

authors： van den Hurk JA,Hendriks W,van de Pol DJ,Oerlemans F,Jaissle G,Rüther K,Kohler K,Hartmann J,Zrenner E,van Bokhoven H,Wieringa B,Ropers HH,Cremers FP

更新日期：1997-06-01 00:00:00

abstract：:Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH...

journal_title：Human molecular genetics

authors： Eichinger A,Danecka MK,Möglich T,Borsch J,Woidy M,Büttner L,Muntau AC,Gersting SW

更新日期：2018-05-15 00:00:00

abstract：:Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder that results from the expansion of a cryptic CAG repeat within the exon 1 of the SCA2 gene. The CAG repeat in normal individuals varies in length from 14 to 31 repeats and is frequently interrupted by one or more CAA triplets, whereas ...

journal_title：Human molecular genetics

authors： Choudhry S,Mukerji M,Srivastava AK,Jain S,Brahmachari SK

更新日期：2001-10-01 00:00:00

abstract：:Angelman syndrome (AS) is a neurodevelopmental disorder caused due to deletions or loss-of-function mutations in maternally inherited UBE3A. Ube3a functions as an ubiquitin ligase as well as a transcriptional coactivator of steroid hormone receptors. However, the mechanisms by which maternal Ube3a deficiency gives ris...

journal_title：Human molecular genetics

authors： Godavarthi SK,Dey P,Maheshwari M,Jana NR

更新日期：2012-04-15 00:00:00

abstract：:Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...

journal_title：Human molecular genetics

authors： Biancolella M,Fortini BK,Tring S,Plummer SJ,Mendoza-Fandino GA,Hartiala J,Hitchler MJ,Yan C,Schumacher FR,Conti DV,Edlund CK,Noushmehr H,Coetzee SG,Bresalier RS,Ahnen DJ,Barry EL,Berman BP,Rice JC,Coetzee GA,Casey G

更新日期：2014-04-15 00:00:00

abstract：:Amelogenesis imperfecta (AI) describes a broad group of clinically and genetically heterogeneous inherited defects of dental enamel bio-mineralization. Despite identification of a number of genetic mutations underlying AI, the precise causal mechanisms have yet to be determined. Using a multi-disciplinary approach, we...

journal_title：Human molecular genetics

authors： Barron MJ,Brookes SJ,Kirkham J,Shore RC,Hunt C,Mironov A,Kingswell NJ,Maycock J,Shuttleworth CA,Dixon MJ

更新日期：2010-04-01 00:00:00

abstract：:Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to induce clinically relevant changes in muscle function is poorly u...

journal_title：Human molecular genetics

authors： Godfrey C,Muses S,McClorey G,Wells KE,Coursindel T,Terry RL,Betts C,Hammond S,O'Donovan L,Hildyard J,El Andaloussi S,Gait MJ,Wood MJ,Wells DJ

更新日期：2015-08-01 00:00:00

abstract：:The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wi...

journal_title：Human molecular genetics

authors： Feuk L,Marshall CR,Wintle RF,Scherer SW

更新日期：2006-04-15 00:00:00

abstract：:α-Synuclein and mutant huntingtin are the major constituents of the intracellular aggregates that characterize the pathology of Parkinson's disease (PD) and Huntington's disease (HD), respectively. α-Synuclein is likely to be a major contributor to PD, since overexpression of this protein resulting from genetic tripli...

journal_title：Human molecular genetics

authors： Corrochano S,Renna M,Carter S,Chrobot N,Kent R,Stewart M,Cooper J,Brown SD,Rubinsztein DC,Acevedo-Arozena A

更新日期：2012-02-01 00:00:00

abstract：:Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using ...

journal_title：Human molecular genetics

authors： Steinberg S,de Jong S,Irish Schizophrenia Genomics Consortium.,Andreassen OA,Werge T,Børglum AD,Mors O,Mortensen PB,Gustafsson O,Costas J,Pietiläinen OP,Demontis D,Papiol S,Huttenlocher J,Mattheisen M,Breuer R,Vassos E,

更新日期：2011-10-15 00:00:00

abstract：:The X-linked reproductive homeobox (RHOX) gene cluster encodes transcription factors preferentially expressed in reproductive tissues. This gene cluster has important roles in male fertility based on phenotypic defects of Rhox-mutant mice and the finding that aberrant RHOX promoter methylation is strongly associated w...

journal_title：Human molecular genetics

authors： Borgmann J,Tüttelmann F,Dworniczak B,Röpke A,Song HW,Kliesch S,Wilkinson MF,Laurentino S,Gromoll J

更新日期：2016-11-15 00:00:00

abstract：:A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to a dominant disease with progressive external ophthalmoplegia and other symptoms. The biochemical effect of the Y955C mutation has been extensiv...

journal_title：Human molecular genetics

authors： Atanassova N,Fusté JM,Wanrooij S,Macao B,Goffart S,Bäckström S,Farge G,Khvorostov I,Larsson NG,Spelbrink JN,Falkenberg M

更新日期：2011-03-15 00:00:00

abstract：:Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected s...

journal_title：Human molecular genetics

authors： Slavotinek AM,Mehrotra P,Nazarenko I,Tang PL,Lao R,Cameron D,Li B,Chu C,Chou C,Marqueling AL,Yahyavi M,Cordoro K,Frieden I,Glaser T,Prescott T,Morren MA,Devriendt K,Kwok PY,Petkovich M,Desnick RJ

更新日期：2013-02-15 00:00:00

abstract：:A strong association between ERAP1 and ankylosing spondylitis (AS) was recently identified by the Wellcome Trust Case Control Consortium and the Australo-Anglo-American Spondylitis Consortium (WTCCC-TASC) study. ERAP1 is highly polymorphic with strong linkage disequilibrium evident across the gene. We therefore conduc...

journal_title：Human molecular genetics

authors： Harvey D,Pointon JJ,Evans DM,Karaderi T,Farrar C,Appleton LH,Sturrock RD,Stone MA,Oppermann U,Brown MA,Wordsworth BP

更新日期：2009-11-01 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：:Motivated by the overwhelming success of genome-wide association studies, droves of researchers are working vigorously to exchange and to combine genetic data to expediently discover genetic risk factors for common human traits. The primary tools that fuel these new efforts are imputation, allowing researchers who hav...

journal_title：Human molecular genetics

authors： de Bakker PI,Ferreira MA,Jia X,Neale BM,Raychaudhuri S,Voight BF

更新日期：2008-10-15 00:00:00

abstract：:Selenoprotein N (SelN) deficiency causes a group of inherited neuromuscular disorders termed SEPN1-related myopathies (SEPN1-RM). Although the function of SelN remains unknown, recent data demonstrated that it is dispensable for mouse embryogenesis and suggested its involvement in the regulation of ryanodine receptors...

journal_title：Human molecular genetics

authors： Castets P,Bertrand AT,Beuvin M,Ferry A,Le Grand F,Castets M,Chazot G,Rederstorff M,Krol A,Lescure A,Romero NB,Guicheney P,Allamand V

更新日期：2011-02-15 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：: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：:Hearing loss is the most common sensory deficit in humans. We show that a point mutation in DCDC2 (DCDC2a), a member of doublecortin domain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family. Using immunofluorescence on rat inner ear neuroepithelia, DCDC2a was found to ...

journal_title：Human molecular genetics

authors： Grati M,Chakchouk I,Ma Q,Bensaid M,Desmidt A,Turki N,Yan D,Baanannou A,Mittal R,Driss N,Blanton S,Farooq A,Lu Z,Liu XZ,Masmoudi S

更新日期：2015-05-01 00:00:00

abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

journal_title：Human molecular genetics

authors： Berwick DC,Harvey K

更新日期：2012-11-15 00:00:00

abstract：:Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients...

journal_title：Human molecular genetics

authors： Matsumoto N,Kobayashi N,Uda N,Hirota M,Kawasaki H

更新日期：2018-03-15 00:00:00

abstract：:Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...

journal_title：Human molecular genetics

authors： Weterman MAJ,Kuo M,Kenter SB,Gordillo S,Karjosukarso DW,Takase R,Bronk M,Oprescu S,van Ruissen F,Witteveen RJW,Bienfait HME,Breuning M,Verhamme C,Hou YM,de Visser M,Antonellis A,Baas F

更新日期：2018-12-01 00:00:00

abstract：:Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodyspl...

journal_title：Human molecular genetics

authors： Duchatelet S,Ostergaard E,Cortes D,Lemainque A,Julier C

更新日期：2005-01-01 00:00:00

abstract：:Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. The majority of these mutations occur de novo and differ from one patient to another. Cytogenetics and Southern blotting were shown to detect less than 15% of constitutional rearrangements. In this study we used the polymerase chain...

journal_title：Human molecular genetics

authors： Blanquet V,Turleau C,Gross MS,Goossens M,Besmond C

更新日期：1993-07-01 00:00:00

abstract：:Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two het...

journal_title：Human molecular genetics

authors： Wu JH,Liu JH,Ko YC,Wang CT,Chung YC,Chu KC,Liu TT,Chao HM,Jiang YJ,Chen SJ,Chung MY

更新日期：2016-04-15 00:00:00

abstract：:Machado-Joseph disease (MJD) is a fatal, dominant neurodegenerative disorder. MJD results from polyglutamine repeat expansion in the MJD-1 gene, conferring a toxic gain of function to the ataxin-3 protein. In this study, we aimed at overexpressing ataxin-3 in the rat brain using lentiviral vectors (LV), to generate an...

journal_title：Human molecular genetics

authors： Alves S,Régulier E,Nascimento-Ferreira I,Hassig R,Dufour N,Koeppen A,Carvalho AL,Simões S,de Lima MC,Brouillet E,Gould VC,Déglon N,de Almeida LP

更新日期：2008-07-15 00:00:00

abstract：:Mutations in RP2 cause the second most frequent form of X-linked retinitis pigmentosa, a severe retinal degeneration that leads to loss of visual acuity and blindness. The RP2 gene encodes a protein with homology to cofactor C, a tubulin-folding chaperone. By searching protein sequence databases, we identified a whole...

journal_title：Human molecular genetics

authors： Schwahn U,Paland N,Techritz S,Lenzner S,Berger W

更新日期：2001-05-15 00:00:00

abstract：:We examined the imprinting status of the insulin-like growth factor II gene (IGF2) in a series of 20 human breast disease samples to determine if disrupted imprinting (as evidenced by biallelic expression), was a demonstrable mechanism of altered gene expression. These samples included benign (n = 7) and malignant bre...

journal_title：Human molecular genetics

authors： McCann AH,Miller N,O'Meara A,Pedersen I,Keogh K,Gorey T,Dervan PA

更新日期：1996-08-01 00:00:00