Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.

abstract：:The clinical manifestations of inherited neurodegenerative diseases are often delayed for periods from years to decades. This observation has led to the idea that, in these disorders, neurons die from cumulative damage. A critical prediction of the cumulative damage hypothesis is that the probability of neuronal death...

journal_title：Human molecular genetics

authors： Clarke G,Lumsden CJ,McInnes RR

更新日期：2001-10-01 00:00:00

abstract：:The fragile X syndrome is characterized at the molecular level by expansion and methylation of a CGG trinucleotide repeat located within the FMR1 locus. The tissues of most full mutation carriers are mosaic for repeat size, but these mutational patterns tend to be well conserved when comparing multiple tissues within ...

journal_title：Human molecular genetics

authors： Burman RW,Popovich BW,Jacky PB,Turker MS

更新日期：1999-11-01 00:00:00

abstract：:Primary open-angle glaucoma (POAG) is a complex disorder characterized by a progressive and treatable degeneration of the optic nerve. TIGR/myocilin (MYOC) gene mutations are found in approximately 4% of all POAG patients. Populations with frequent founder effects, such as the French-Canadians, offer unique advantages...

journal_title：Human molecular genetics

authors： Faucher M,Anctil JL,Rodrigue MA,Duchesne A,Bergeron D,Blondeau P,Côté G,Dubois S,Bergeron J,Arseneault R,Morissette J,Raymond V,Québec Glaucoma Network.

更新日期：2002-09-01 00:00:00

abstract：:Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...

journal_title：Human molecular genetics

authors： Schaefer AS,Richter GM,Nothnagel M,Manke T,Dommisch H,Jacobs G,Arlt A,Rosenstiel P,Noack B,Groessner-Schreiber B,Jepsen S,Loos BG,Schreiber S

更新日期：2010-02-01 00:00:00

abstract：:The genes of the piwi family are defined by conserved PAZ and Piwi domains and play important roles in stem-cell self-renewal, RNA silencing and translational regulation in various organisms. Both, mouse and human Piwil2 genes, members of the piwi gene family, are specifically expressed in testis. We report here enhan...

journal_title：Human molecular genetics

authors： Lee JH,Schütte D,Wulf G,Füzesi L,Radzun HJ,Schweyer S,Engel W,Nayernia K

更新日期：2006-01-15 00:00:00

abstract：:The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retardation. Mutations in the gene for Delta(7)-dehydrocholesterol reductase (Delta(7)-re...

journal_title：Human molecular genetics

authors： Yu H,Lee MH,Starck L,Elias ER,Irons M,Salen G,Patel SB,Tint GS

更新日期：2000-05-22 00:00:00

abstract：:The short stature homeobox gene SHOX encodes a transcription factor which is important for normal limb development. In humans, SHOX deficiency has been associated with various short stature syndromes including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia and Turner syndrome as well as non-syndromic i...

journal_title：Human molecular genetics

authors： Decker E,Durand C,Bender S,Rödelsperger C,Glaser A,Hecht J,Schneider KU,Rappold G

更新日期：2011-04-15 00:00:00

abstract：:Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progr...

journal_title：Human molecular genetics

authors： Palmieri L,Alberio S,Pisano I,Lodi T,Meznaric-Petrusa M,Zidar J,Santoro A,Scarcia P,Fontanesi F,Lamantea E,Ferrero I,Zeviani M

更新日期：2005-10-15 00:00:00

abstract：:Schizophrenia is a severely debilitating psychiatric disease that is hypothesized to have its roots in neurodevelopment. Although the precise neuropathology underlying schizophrenia has remained elusive, there are consistent reports of abnormalities in several brain areas. Chief among these is the hippocampus, an area...

journal_title：Human molecular genetics

authors： Meyer KD,Morris JA

更新日期：2009-09-01 00:00:00

abstract：:Sphingosine-1-phosphate (S1P) is a lipid-signaling molecule produced by sphingosine kinase in response to a wide number of stimuli. By acting through a family of widely expressed G protein-coupled receptors, S1P regulates diverse physiological processes. Here we examined the role of S1P signaling in neurodegeneration ...

journal_title：Human molecular genetics

authors： Wu YP,Mizugishi K,Bektas M,Sandhoff R,Proia RL

更新日期：2008-08-01 00:00:00

abstract：:The DTNBP1 gene, encoding dysbindin, is now generally considered to be a susceptibility gene for schizophrenia. However, the confidence with which this hypothesis can be held has to be tempered by the poor reproducibility between studies in terms of the exact nature of the associated haplotypes, by the failure so far ...

journal_title：Human molecular genetics

authors： Bray NJ,Preece A,Williams NM,Moskvina V,Buckland PR,Owen MJ,O'Donovan MC

更新日期：2005-07-15 00:00:00

abstract：:The gene encoding protein kinase WNK2 was recently identified to be silenced by promoter hypermethylation in gliomas and meningiomas, suggesting a tumour-suppressor role in these brain tumours. Following experimental depletion in cell lines, WNK2 was further found to control GTP-loading of Rac1, a signalling guanosine...

journal_title：Human molecular genetics

authors： Moniz S,Martinho O,Pinto F,Sousa B,Loureiro C,Oliveira MJ,Moita LF,Honavar M,Pinheiro C,Pires M,Lopes JM,Jones C,Costello JF,Paredes J,Reis RM,Jordan P

更新日期：2013-01-01 00:00:00

abstract：:Neurons throughout the brain suddenly discharging synchronously and recurrently cause primarily generalized seizures. Discharges localized awhile in one part of the brain cause focal-onset seizures. A genetically determined generalized hyperexcitability had been predicted in primarily generalized seizures, but surpris...

journal_title：Human molecular genetics

authors： Turnbull J,Lohi H,Kearney JA,Rouleau GA,Delgado-Escueta AV,Meisler MH,Cossette P,Minassian BA

更新日期：2005-10-15 00:00:00

abstract：:Ubiquinone (UQ), a.k.a. coenzyme Q, is a redox-active lipid that participates in several cellular processes, in particular mitochondrial electron transport. Primary UQ deficiency is a rare but severely debilitating condition. Mclk1 (a.k.a. Coq7) encodes a conserved mitochondrial enzyme that is necessary for UQ biosynt...

journal_title：Human molecular genetics

authors： Wang Y,Hekimi S

更新日期：2013-12-01 00:00:00

abstract：:We describe and functionally characterize six mutations of the acetylcholine receptor (AChR) epsilon subunit gene in three congenital myasthenic syndrome patients. Endplate studies demonstrated severe endplate AChR deficiency, dispersed endplate regions and well preserved junctional folds in all three patients. Electr...

journal_title：Human molecular genetics

authors： Ohno K,Quiram PA,Milone M,Wang HL,Harper MC,Pruitt JN 2nd,Brengman JM,Pao L,Fischbeck KH,Crawford TO,Sine SM,Engel AG

更新日期：1997-05-01 00:00:00

abstract：:Costello syndrome (CS) is a developmental disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, mental retardation and skin and musculo-skeletal defects. CS is caused by HRAS germline mutations. In the majority of cases, mutations affect Gly(12) and Gly(13) and are associated with a ...

journal_title：Human molecular genetics

authors： Gremer L,De Luca A,Merbitz-Zahradnik T,Dallapiccola B,Morlot S,Tartaglia M,Kutsche K,Ahmadian MR,Rosenberger G

更新日期：2010-03-01 00:00:00

abstract：:Genetic and environmental influences are thought to interact in their contribution to the etiology of major neuropsychiatric disorders. One of the best replicated findings obtained in genome-wide association studies are genetic variants in the CACNA1C gene. Here, we used our constitutive heterozygous Cacna1c rat model...

journal_title：Human molecular genetics

authors： Braun MD,Kisko TM,Witt SH,Rietschel M,Schwarting RKW,Wöhr M

更新日期：2019-12-15 00:00:00

abstract：:With progress in genome-wide association studies of depression, from identifying zero hits in ~16 000 individuals in 2013 to 223 hits in more than a million individuals in 2020, understanding the genetic architecture of this debilitating condition no longer appears to be an impossible task. The pressing question now i...

journal_title：Human molecular genetics

authors： Cai N,Choi KW,Fried EI

更新日期：2020-09-30 00:00:00

abstract：:Both genetic and environmental factors contribute to the development of intellectual disability (ID). Previously, we identified a promoter variant (-113C>A) in PLP2 (proteolipid protein 2) that results in an ∼4-fold reduction of transcript and protein and is overly represented in males with X-linked ID (XLID). The fun...

journal_title：Human molecular genetics

authors： Zhang L,Wang T,Valle D

更新日期：2015-12-20 00:00:00

abstract：:Clinical observations and epidemiologic studies suggest that the incidence of head and neck squamous cell carcinoma (HNSCC) correlates with dental hygiene, implying a role for bacteria-induced inflammation in its pathogenesis. Here we begin to explore the pilot hypothesis that specific microbial populations may contri...

journal_title：Human molecular genetics

authors： Bebek G,Bennett KL,Funchain P,Campbell R,Seth R,Scharpf J,Burkey B,Eng C

更新日期：2012-04-01 00:00:00

abstract：:The APOE epsilon4 allele is a strong genetic susceptibility factor for Alzheimer's disease. Interaction with other biological factors may modulate the effect of the apoE isoforms. However, previous work suggested that other genetic variability within the APOE locus, influencing the effect of the epsilon4 allele, may e...

journal_title：Human molecular genetics

authors： Lambert JC,Pérez-Tur J,Dupire MJ,Galasko D,Mann D,Amouyel P,Hardy J,Delacourte A,Chartier-Harlin MC

更新日期：1997-11-01 00:00:00

abstract：:The minibrain (mnb) gene of Drosophila melanogaster encodes a serine-threonine protein kinase with an essential role in postembryonic neurogenesis. A corresponding human gene with similar function to mnb could provide important insights into both normal brain development and the abnormal brain development and mental r...

journal_title：Human molecular genetics

authors： Guimerá J,Casas C,Pucharcòs C,Solans A,Domènech A,Planas AM,Ashley J,Lovett M,Estivill X,Pritchard MA

更新日期：1996-09-01 00:00:00

abstract：:Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five ...

journal_title：Human molecular genetics

authors： Bottai D,Spreafico M,Pistocchi A,Fazio G,Adami R,Grazioli P,Canu A,Bragato C,Rigamonti S,Parodi C,Cazzaniga G,Biondi A,Cotelli F,Selicorni A,Massa V

更新日期：2019-01-01 00:00:00

abstract：:Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. Moreover, the function of UCH-L1 may be lost in the brains of PD and Alzheimer's disease patients. We have previously reported that the UCH-L1 polymorphic variant S18Y, potentially...

journal_title：Human molecular genetics

authors： Xilouri M,Kyratzi E,Pitychoutis PM,Papadopoulou-Daifoti Z,Perier C,Vila M,Maniati M,Ulusoy A,Kirik D,Park DS,Wada K,Stefanis L

更新日期：2012-02-15 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, which is translated into an elongated polyglutamine (polyQ) tract in AR protein (ARpolyQ). ARpolyQ toxicity is activated by the AR ligand testosterone (or dihydrotestost...

journal_title：Human molecular genetics

authors： Giorgetti E,Rusmini P,Crippa V,Cristofani R,Boncoraglio A,Cicardi ME,Galbiati M,Poletti A

更新日期：2015-01-01 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：:The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare ne...

journal_title：Human molecular genetics

authors： Hemberger M,Himmelbauer H,Neumann HP,Plate KH,Schwarzkopf G,Fundele R

更新日期：1999-02-01 00:00:00

abstract：:Cell pathology in lysosomal storage diseases is characterized by the formation of distended vacuoles with characteristics of lysosomes. Our previous studies in mucopolysaccharidosis type IIIB (MPSIIIB), a disease in which a genetic defect induces the accumulation of undigested heparan sulfate (HS) fragments, led to th...

journal_title：Human molecular genetics

authors： Roy E,Bruyère J,Flamant P,Bigou S,Ausseil J,Vitry S,Heard JM

更新日期：2012-04-01 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

abstract：:Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further...

journal_title：Human molecular genetics

authors： Zelante L,Gasparini P,Estivill X,Melchionda S,D'Agruma L,Govea N,Milá M,Monica MD,Lutfi J,Shohat M,Mansfield E,Delgrosso K,Rappaport E,Surrey S,Fortina P

更新日期：1997-09-01 00:00:00