Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy.

abstract：:Superovulation or ovarian stimulation is currently an indispensable assisted reproductive technology (ART) for human subfertility/infertility treatment. Recently, increased frequencies of imprinting disorders have been correlated with ARTs. Significantly, for Angelman and Beckwith-Wiedemann Syndromes, patients have be...

journal_title：Human molecular genetics

authors： Market-Velker BA,Zhang L,Magri LS,Bonvissuto AC,Mann MR

更新日期：2010-01-01 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：: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：:Determining the full complement of protein-coding genes is a key goal of genome annotation. The most powerful approach for confirming protein-coding potential is the detection of cellular protein expression through peptide mass spectrometry (MS) experiments. Here, we mapped peptides detected in seven large-scale prote...

journal_title：Human molecular genetics

authors： Ezkurdia I,Juan D,Rodriguez JM,Frankish A,Diekhans M,Harrow J,Vazquez J,Valencia A,Tress ML

更新日期：2014-11-15 00:00:00

abstract：:Alzheimer's disease (AD) and related tauopathies comprise a large group of neurodegenerative diseases associated with the pathological aggregation of tau protein. While much effort has focused on understanding the function of tau, little is known about the endogenous mechanisms regulating tau metabolism in vivo and ho...

journal_title：Human molecular genetics

authors： Smith PY,Hernandez-Rapp J,Jolivette F,Lecours C,Bisht K,Goupil C,Dorval V,Parsi S,Morin F,Planel E,Bennett DA,Fernandez-Gomez FJ,Sergeant N,Buée L,Tremblay MÈ,Calon F,Hébert SS

更新日期：2015-12-01 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：:Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To date, mutations in only two nuclear genes causing COX deficiency have been described. We report here a genetic linkage study of a consanguineous family with an isolated COX defect and subsequ...

journal_title：Human molecular genetics

authors： Valnot I,von Kleist-Retzow JC,Barrientos A,Gorbatyuk M,Taanman JW,Mehaye B,Rustin P,Tzagoloff A,Munnich A,Rötig A

更新日期：2000-05-01 00:00:00

abstract：:Chromogranins are pro-hormone secretory proteins released from neuroendocrine cells, with effects on control of blood pressure. We conducted a genome-wide association study for plasma catestatin, the catecholamine release inhibitory peptide derived from chromogranin A (CHGA), and other CHGA- or chromogranin B (CHGB)-r...

journal_title：Human molecular genetics

authors： Benyamin B,Maihofer AX,Schork AJ,Hamilton BA,Rao F,Schmid-Schönbein GW,Zhang K,Mahata M,Stridsberg M,Schork NJ,Biswas N,Hook VY,Wei Z,Montgomery GW,Martin NG,Nievergelt CM,Whitfield JB,O'Connor DT

更新日期：2017-01-01 00:00:00

abstract：:The biogenesis of the mitochondrial inner membrane is dependent on two distinct 70 kDa protein complexes. TIMM8a partners with TIMM13 in the mitochondrial intermembrane space to form a 70 kDa complex and facilitates the import of the inner membrane substrate TIMM23. We have identified a new class of substrates, citrin...

journal_title：Human molecular genetics

authors： Roesch K,Hynds PJ,Varga R,Tranebjaerg L,Koehler CM

更新日期：2004-09-15 00:00:00

abstract：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

journal_title：Human molecular genetics

authors： Liu W,Jiang F,Bi X,Zhang YQ

更新日期：2012-11-01 00:00:00

abstract：:Friedreich ataxia is commonly caused by large expansions of a GAA triplet-repeat (GAA-TR) sequence in the first intron of the FRDA gene. We used small-pool PCR to analyze somatic variability among 7190 individual FRDA molecules from peripheral blood DNA of subjects carrying 12 different expanded alleles, ranging in si...

journal_title：Human molecular genetics

authors： Sharma R,Bhatti S,Gomez M,Clark RM,Murray C,Ashizawa T,Bidichandani SI

更新日期：2002-09-01 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：:GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal pentraxins 1 and 2, and the neuronal pentraxin recepto...

journal_title：Human molecular genetics

authors： Hooper AWM,Alamilla JF,Venier RE,Gillespie DC,Igdoura SA

更新日期：2017-02-15 00:00:00

abstract：:As the powerhouses of the eukaryotic cell, mitochondria must maintain their genomes which encode proteins essential for energy production. Mitochondria are characterized by guanine-rich DNA sequences that spontaneously form unusual three-dimensional structures known as G-quadruplexes (G4). G4 structures can be problem...

journal_title：Human molecular genetics

authors： Butler TJ,Estep KN,Sommers JA,Maul RW,Moore AZ,Bandinelli S,Cucca F,Tuke MA,Wood AR,Bharti SK,Bogenhagen DF,Yakubovskaya E,Garcia-Diaz M,Guilliam TA,Byrd AK,Raney KD,Doherty AJ,Ferrucci L,Schlessinger D,Ding J,Bro

更新日期：2020-05-28 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：:Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in these diseases, a pathological hallmark, is associated with defects in protein hom...

journal_title：Human molecular genetics

authors： Bott LC,Badders NM,Chen KL,Harmison GG,Bautista E,Shih CC,Katsuno M,Sobue G,Taylor JP,Dantuma NP,Fischbeck KH,Rinaldi C

更新日期：2016-05-15 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：:The sensitivity of single-strand conformation polymorphism (SSCP) analysis for the detection of mutations in the porphobilinogen deaminase (PBGD) gene among Finnish patients with acute intermittent porphyria (AIP) was studied. 13 novel mutations including one de novo event, and six previously characterized mutations w...

journal_title：Human molecular genetics

authors： Kauppinen R,Mustajoki S,Pihlaja H,Peltonen L,Mustajoki P

更新日期：1995-02-01 00:00:00

abstract：:ARHI has been identified as a maternally imprinted tumor suppressor gene that maps to chromosome 1p31 and whose expression is markedly down-regulated in breast cancer. To explore possible mechanisms that could silence ARHI expression, we have tested the importance of DNA methylation, histone acetylation and histone me...

journal_title：Human molecular genetics

authors： Fujii S,Luo RZ,Yuan J,Kadota M,Oshimura M,Dent SR,Kondo Y,Issa JP,Bast RC Jr,Yu Y

更新日期：2003-08-01 00:00:00

abstract：:PLEKHA7, a gene recently associated with primary angle closure glaucoma (PACG), encodes an apical junctional protein expressed in components of the blood aqueous barrier (BAB). We found that PLEKHA7 is down-regulated in lens epithelial cells and in iris tissue of PACG patients. PLEKHA7 expression also correlated with ...

journal_title：Human molecular genetics

authors： Lee MC,Shei W,Chan AS,Chua BT,Goh SR,Chong YF,Hilmy MH,Nongpiur ME,Baskaran M,Khor CC,Aung T,Hunziker W,Vithana EN

更新日期：2017-10-15 00:00:00

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：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct a...

journal_title：Human molecular genetics

authors： Topçu M,Jobard F,Halliez S,Coskun T,Yalçinkayal C,Gerceker FO,Wanders RJ,Prud'homme JF,Lathrop M,Ozguc M,Fischer J

更新日期：2004-11-15 00:00:00

abstract：:Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a...

journal_title：Human molecular genetics

authors： Cremers FP,van de Pol DJ,van Driel M,den Hollander AI,van Haren FJ,Knoers NV,Tijmes N,Bergen AA,Rohrschneider K,Blankenagel A,Pinckers AJ,Deutman AF,Hoyng CB

更新日期：1998-03-01 00:00:00

abstract：:Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update. J. Clin. Endocrinol. Metab., 99, 1503-1509]. Functional studies demonstrated that all of these mutations cause a protein gain-of-function...

journal_title：Human molecular genetics

authors： Chamberlin A,Huether R,Machado AZ,Groden M,Liu HM,Upadhyay K,O V,Gomes NL,Lerario AM,Nishi MY,Costa EMF,Mendonca B,Domenice S,Velasco J,Loke J,Ostrer H

更新日期：2019-05-15 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：:The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulgaria which is situated ...

journal_title：Human molecular genetics

authors： Savov A,Mercier B,Kalaydjieva L,Férec C

更新日期：1994-01-01 00:00:00

abstract：:Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional...

journal_title：Human molecular genetics

authors： Fogel BL,Cho E,Wahnich A,Gao F,Becherel OJ,Wang X,Fike F,Chen L,Criscuolo C,De Michele G,Filla A,Collins A,Hahn AF,Gatti RA,Konopka G,Perlman S,Lavin MF,Geschwind DH,Coppola G

更新日期：2014-09-15 00:00:00

abstract：:A proportion of human breast cancers result from an inherited predisposition to the disease. Mutations in the BRCA2 gene confer a high risk of breast cancer and are responsible for almost half of these cases. The recent cloning of the human BRCA2 gene has revealed that it encodes a large protein having little signific...

journal_title：Human molecular genetics

authors： Connor F,Smith A,Wooster R,Stratton M,Dixon A,Campbell E,Tait TM,Freeman T,Ashworth A

更新日期：1997-02-01 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：:Mutations in human mitochondrial tRNA genes are associated with a number of multisystemic disorders. Using an assay that combines tRNA oxidation and circularization we have determined the relative amounts and states of aminoacylation of mutant and wild-type tRNAs in tissue samples from patients with MELAS syndrome (mi...

journal_title：Human molecular genetics

authors： Börner GV,Zeviani M,Tiranti V,Carrara F,Hoffmann S,Gerbitz KD,Lochmüller H,Pongratz D,Klopstock T,Melberg A,Holme E,Pääbo S

更新日期：2000-03-01 00:00:00