Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

abstract：:The RASopathies are a group of genetic syndromes caused by upregulated RAS signaling. Noonan syndrome (NS), the most common entity among the RASopathies, is characterized mainly by short stature, cardiac anomalies and distinctive facial features. Mutations in multiple RAS-MAPK pathway-related genes have been associate...

journal_title：Human molecular genetics

authors： Motta M,Sagi-Dain L,Krumbach OHF,Hahn A,Peleg A,German A,Lissewski C,Coppola S,Pantaleoni F,Kocherscheid L,Altmüller F,Schanze D,Logeswaran T,Chahrokh-Zadeh S,Munzig A,Nakhaei-Rad S,Cavé H,Ahmadian MR,Tartaglia M,Ze

更新日期：2020-07-21 00:00:00

abstract：:Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two clo...

journal_title：Human molecular genetics

authors： Liu C,Bakeri H,Li T,Swaroop A

更新日期：2012-04-15 00:00:00

abstract：:Accumulating data suggest a link between alterations/deficiencies in cytoskeletal proteins and the progression of cardiomyopathy and heart failure, although the molecular basis for this link remains unclear. Cypher/ZASP is a cytoskeletal protein localized in the sarcomeric Z-line. Mutations in its encoding gene have b...

journal_title：Human molecular genetics

authors： Zheng M,Cheng H,Li X,Zhang J,Cui L,Ouyang K,Han L,Zhao T,Gu Y,Dalton ND,Bang ML,Peterson KL,Chen J

更新日期：2009-02-15 00:00:00

abstract：:The molecular defects responsible for three cases of severe (type III) osteogenesis imperfecta (OI) were investigated. The mutation sites were localized in pro alpha 1(I) and pro alpha 2(I) mRNA molecules, respectively, by chemical cleavage of mismatch in heteroduplex nucleic acids. Mutation identification was achieve...

journal_title：Human molecular genetics

authors： Forlino A,Zolezzi F,Valli M,Pignatti PF,Cetta G,Brunelli PC,Mottes M

更新日期：1994-12-01 00:00:00

abstract：:The development of small animal models is of major interest to unravel the pathogenesis and treatment of neurodegenerative diseases, especially because of their potential in large-scale chemical and genetic screening. We have investigated the zebrafish as a model to study amyotrophic lateral sclerosis (ALS), a fatal n...

journal_title：Human molecular genetics

authors： Lemmens R,Van Hoecke A,Hersmus N,Geelen V,D'Hollander I,Thijs V,Van Den Bosch L,Carmeliet P,Robberecht W

更新日期：2007-10-01 00:00:00

abstract：:Proteins and protein networks associated with cochlear pathogenesis in the Ames waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified. Cochlear protein from wild-type and av mice at postnatal day 30, a time point in which cochlear pathology is well established, was analyzed by quantita...

journal_title：Human molecular genetics

authors： Chance MR,Chang J,Liu S,Gokulrangan G,Chen DH,Lindsay A,Geng R,Zheng QY,Alagramam K

更新日期：2010-04-15 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with a high spontaneous mutation rate and no effective treatment, hence development of genetic based therapies is an important goal. We report that expression of a recombinant human minidystrophin cDNA, compatible with current viral vectors, can...

journal_title：Human molecular genetics

authors： Wells DJ,Wells KE,Asante EA,Turner G,Sunada Y,Campbell KP,Walsh FS,Dickson G

更新日期：1995-08-01 00:00:00

abstract：:Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31.1 and may account for 5-10% of adRP cases among Americans and Europeans. We identified two American families with the RP10...

journal_title：Human molecular genetics

authors： Bowne SJ,Sullivan LS,Blanton SH,Cepko CL,Blackshaw S,Birch DG,Hughbanks-Wheaton D,Heckenlively JR,Daiger SP

更新日期：2002-03-01 00:00:00

abstract：:We have studied the functional effects of nonsense mitochondrial DNA (mtDNA) mutations in the COXI and ND5 genes in a colorectal tumor cell line. Surprisingly, these cells had an efficient oxidative phosphorylation (OXPHOS); however, when mitochondria from these cells were transferred to an osteosarcoma nuclear backgr...

journal_title：Human molecular genetics

authors： Srivastava S,Barrett JN,Moraes CT

更新日期：2007-04-15 00:00:00

abstract：:Infantile neuronal ceroid lipofuscinosis (INCL), a neurodegenerative storage disorder of childhood, is caused by mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in S-acylated (palmitoylated) proteins and its mutation causes abnormal intracellular accumulation of fatty-acy...

journal_title：Human molecular genetics

authors： Kim SJ,Zhang Z,Hitomi E,Lee YC,Mukherjee AB

更新日期：2006-06-01 00:00:00

abstract：:A single-base substitution in the coding region of the androgen receptor (AR) gene caused complete androgen insensitivity in a patient with 46,XY karyotype. The mutation was a T-to-G transition in exon 6 and changed the codon 807 from ATG (methionine) to AGG (arginine) in the hormone-binding domain of the protein. The...

journal_title：Human molecular genetics

authors： Adeyemo O,Kallio PJ,Palvimo JJ,Kontula K,Jänne OA

更新日期：1993-11-01 00:00:00

abstract：:Missense mutations and extra copies of the alpha-Synuclein gene result in Parkinson disease (PD). Human stem and progenitor cells can be expanded from embryonic tissues and provide a source of non-transformed neural cells to explore the effects of these pathogenic mutations specifically in human nervous tissue. We ove...

journal_title：Human molecular genetics

authors： Schneider BL,Seehus CR,Capowski EE,Aebischer P,Zhang SC,Svendsen CN

更新日期：2007-03-15 00:00:00

abstract：:A significant minority of degenerative dementias lack distinctive inclusion bodies, plagues or tangles on pathological examination. Half of these cases have a positive family history of dementia. We have studied the largest published family with such a dementia and mapped the disease locus to a 12 cM region of chromos...

journal_title：Human molecular genetics

authors： Brown J,Ashworth A,Gydesen S,Sorensen A,Rossor M,Hardy J,Collinge J

更新日期：1995-09-01 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：:Loss-of-function mutations in RET cause abnormal development of the enteric nervous system, a congenital condition known as Hirschsprung disease. Hirschsprung mutations in the extracellular domain of RET (RETECD) affect processing in the endoplasmic reticulum (ER) and prevent RET expression at the cell surface. We hav...

journal_title：Human molecular genetics

authors： Kjaer S,Ibáñez CF

更新日期：2003-09-01 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：:Alterations in mitochondrial DNA (mtDNA) and consequent loss of mitochondrial function underlie the mitochondrial theory of aging. In this study, we systematically analyzed the mtDNA control region somatic mutation pattern in 2864 single hematopoietic stem cells (HSCs) and progenitors, isolated by flow cytometry sorti...

journal_title：Human molecular genetics

authors： Yao YG,Ellison FM,McCoy JP,Chen J,Young NS

更新日期：2007-02-01 00:00:00

abstract：:DNA replication is a critical step for cells because of the propensity of replication forks to stall, as a consequence either of endogenous DNA damage or of the propensity of repeated sequences to form tertiary structures, which can impede fork progression. Moreover, as a result of stalled replication fork processing,...

journal_title：Human molecular genetics

authors： Franchitto A,Pichierri P

更新日期：2002-10-01 00:00:00

abstract：:The high affinity receptor for IgE (Fc epsilon RI) has a central role in mast cell degranulation and IgE mediated allergy. A systematic search through the coding regions of the beta subunit of Fc epsilon RI (Fc epsilon RI-beta) has identified a novel coding polymorphism in exon seven. An adenine to guanine substitutio...

journal_title：Human molecular genetics

authors： Hill MR,Cookson WO

更新日期：1996-07-01 00:00:00

abstract：:Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction...

journal_title：Human molecular genetics

authors： Mansouri K,Mostafie A,Rezazadeh D,Shahlaei M,Modarressi MH

更新日期：2016-01-15 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：:Proper splicing is often crucial for gene functioning and its disruption may be strongly deleterious. Nevertheless, even the essential for splicing canonical dinucleotides of the splice sites are often polymorphic. Here, we use data from The 1000 Genomes Project to study single-nucleotide polymorphisms (SNPs) in the c...

journal_title：Human molecular genetics

authors： Kurmangaliyev YZ,Sutormin RA,Naumenko SA,Bazykin GA,Gelfand MS

更新日期：2013-09-01 00:00:00

abstract：:Nebulin is a large skeletal muscle protein wound around the thin filaments, with its C-terminus embedded within the Z-disk and its N-terminus extending out toward the thin filament pointed end. While nebulin's C-terminus has been implicated in both sarcomeric structure and function as well as the development of nemali...

journal_title：Human molecular genetics

authors： Li F,Barton ER,Granzier H

更新日期：2019-05-15 00:00:00

abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

journal_title：Human molecular genetics

authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

更新日期：2011-08-15 00:00:00

abstract：:γ-secretase is a macromolecular complex that catalyzes intramembranous hydrolysis of more than 100 membrane-bound substrates. The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are caused...

journal_title：Human molecular genetics

authors： Zhang X,Zhang C,Prokopenko D,Liang Y,Han W,Tanzi RE,Sisodia SS

更新日期：2020-04-15 00:00:00

abstract：:Spinocerebellar ataxia type 2 is an inherited neurodegenerative disorder that is caused by an expanded trinucleotide repeat in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2. Although evidence has been provided that ataxin-2 is involved in RNA metabolism, the physiological function of ata...

journal_title：Human molecular genetics

authors： Ralser M,Nonhoff U,Albrecht M,Lengauer T,Wanker EE,Lehrach H,Krobitsch S

更新日期：2005-10-01 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：:Multicentric chromosomes are often found in tumor cells and certain cell lines. How they are generated is not fully understood, though their stability suggests that they are non-functional during chromosome segregation. Growing evidence has implicated microtubule motor proteins in attachment of chromosomes to the mito...

journal_title：Human molecular genetics

authors： Faulkner NE,Vig B,Echeverri CJ,Wordeman L,Vallee RB

更新日期：1998-04-01 00:00:00

abstract：:We describe a detection principle for indirect fluorescence in situ hybridization (FISH) methods that with only one or two antibody layers dramatically improves FISH signal intensities. The method uses as a first layer an anti-hapten immunoglobulin [or (strept)avidin] conjugated to peroxidase. The quintessence of the ...

journal_title：Human molecular genetics

authors： Raap AK,van de Corput MP,Vervenne RA,van Gijlswijk RP,Tanke HJ,Wiegant J

更新日期：1995-04-01 00:00:00

abstract：BACKGROUND:Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the statistical power to identify the effects from rare genetic variants. We have undertaken extensive analyses to identify regions of low frequency and rare...

journal_title：Human molecular genetics

authors： Richardson TG,Shihab HA,Hemani G,Zheng J,Hannon E,Mill J,Carnero-Montoro E,Bell JT,Lyttleton O,McArdle WL,Ring SM,Rodriguez S,Campbell C,Smith GD,Relton CL,Timpson NJ,Gaunt TR

更新日期：2016-10-01 00:00:00