Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.

abstract：:Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness and possible respiratory distress, followed later in life by symptoms of mild to moderate myasthenia. Th...

journal_title：Human molecular genetics

authors： Christodoulou K,Tsingis M,Deymeer F,Serdaroglu P,Ozdemir C,Al-Shehab A,Bairactaris C,Mavromatis I,Mylonas I,Evoli A,Kyriallis K,Middleton LT

更新日期：1997-04-01 00:00:00

abstract：:Huntington's disease (HD) and myotonic dystrophy (DM1) are caused by trinucleotide repeat expansions. The repeats show different instability patterns according to the disorder, cell type and developmental stage. Here we studied the behavior of these repeats in DM1- and HD-derived human embryonic stem cells (hESCs) bef...

journal_title：Human molecular genetics

authors： Seriola A,Spits C,Simard JP,Hilven P,Haentjens P,Pearson CE,Sermon K

更新日期：2011-01-01 00:00:00

abstract：:Monozygotic twin and other epidemiologic studies indicate that epigenetic processes may play an important role in the pathogenesis of inflammatory bowel diseases that commonly affect the colonic mucosa. The peak onset of these disorders in young adulthood suggests that epigenetic changes normally occurring in the colo...

journal_title：Human molecular genetics

authors： Kellermayer R,Balasa A,Zhang W,Lee S,Mirza S,Chakravarty A,Szigeti R,Laritsky E,Tatevian N,Smith CW,Shen L,Waterland RA

更新日期：2010-06-01 00:00:00

abstract：:The cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the channel subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophy. We investigated the gene expression profiles in mouse retina with CNG channel deficiency usin...

journal_title：Human molecular genetics

authors： Ma H,Thapa A,Morris LM,Michalakis S,Biel M,Frank MB,Bebak M,Ding XQ

更新日期：2013-10-01 00:00:00

abstract：:Sonic Hedgehog (SHH) is one of the most intensively studied genes in developmental biology. It is a highly conserved gene, found in species as diverse as arthropods and mammals. The mammalian SHH encodes a signaling molecule that plays a central role in developmental patterning, especially of the nervous system and th...

journal_title：Human molecular genetics

authors： Dorus S,Anderson JR,Vallender EJ,Gilbert SL,Zhang L,Chemnick LG,Ryder OA,Li W,Lahn BT

更新日期：2006-07-01 00:00:00

abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

journal_title：Human molecular genetics

authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

更新日期：2012-07-01 00:00:00

abstract：:The purpose of this study was to investigate the link between mutant huntingtin (Htt) and neuronal damage in relation to mitochondria in Huntington's disease (HD). In an earlier study, we determined the relationship between mutant Htt and mitochondrial dynamics/synaptic viability in HD patients. We found mitochondrial...

journal_title：Human molecular genetics

authors： Shirendeb UP,Calkins MJ,Manczak M,Anekonda V,Dufour B,McBride JL,Mao P,Reddy PH

更新日期：2012-01-15 00:00:00

abstract：:Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...

journal_title：Human molecular genetics

authors： Sassone J,Taiana M,Lombardi R,Porretta-Serapiglia C,Freschi M,Bonanno S,Marcuzzo S,Caravello F,Bendotti C,Lauria G

更新日期：2016-04-15 00:00:00

abstract：:Mutations in PKD1 cause dominant polycystic kidney disease (PKD), characterized by large fluid-filled kidney cysts in adult life, but the molecular mechanism of cystogenesis remains obscure. Ostrom et al. [Dev. Biol., 219, 250-258 (2000)] showed that reduced dosage of Pax2 caused increased apoptosis, and ameliorated c...

journal_title：Human molecular genetics

authors： Stayner C,Iglesias DM,Goodyer PR,Ellis L,Germino G,Zhou J,Eccles MR

更新日期：2006-12-15 00:00:00

abstract：:CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex det...

journal_title：Human molecular genetics

authors： Carré GA,Siggers P,Xipolita M,Brindle P,Lutz B,Wells S,Greenfield A

更新日期：2018-01-01 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：:To identify genes that affect body mass index (BMI) in American Indians who are predominately of Pima Indian heritage, we previously completed a genome-wide association study in 1120 American Indians. That study also included follow-up genotyping for 9 SNPs in 2133 additional subjects. A comprehensive follow-up study ...

journal_title：Human molecular genetics

authors： Bian L,Traurig M,Hanson RL,Marinelarena A,Kobes S,Muller YL,Malhotra A,Huang K,Perez J,Gale A,Knowler WC,Bogardus C,Baier LJ

更新日期：2013-11-01 00:00:00

abstract：:There is considerable uncertainty and debate concerning the application of linkage disequilibrium (LD) mapping in common multifactorial diseases, including the choice of population and the density of the marker map. Previously, it has been shown that, in the large cosmopolitan population of the UK, the established typ...

journal_title：Human molecular genetics

authors： Zavattari P,Lampis R,Mulargia A,Loddo M,Angius E,Todd JA,Cucca F

更新日期：2000-12-12 00:00:00

abstract：:Gene silencing through aberrant CpG island methylation is a frequent epigenetic defect in hepatocellular carcinoma (HCC). However, nothing is known as yet whether aberrant hypermethylation occurs already in non-neoplastic liver cells from patients with hereditary haemochromatosis who have a clearly elevated risk for d...

journal_title：Human molecular genetics

authors： Lehmann U,Wingen LU,Brakensiek K,Wedemeyer H,Becker T,Heim A,Metzig K,Hasemeier B,Kreipe H,Flemming P

更新日期：2007-06-01 00:00:00

abstract：:Mutations in fibroblast growth factor receptors (FGFRs) cause human birth defect syndromes and are associated with a variety of cancers. Although forced expression of mutant activated FGFRs has been shown to oncogenically transform some immortal cell types, their activity in primary cells remains unclear. Here, we sho...

journal_title：Human molecular genetics

authors： Ota S,Zhou ZQ,Link JM,Hurlin PJ

更新日期：2009-07-15 00:00:00

abstract：:Keratins K6 and K16 are expressed in suprabasal interfollicular epidermis in wound healing and other pathological conditions associated with hyperproliferation, such as psoriasis and are induced when keratinocytes are cultured in vitro. However, these keratins are also constitutively expressed in normal suprabasal muc...

journal_title：Human molecular genetics

authors： Shamsher MK,Navsaria HA,Stevens HP,Ratnavel RC,Purkis PE,Kelsell DP,McLean WH,Cook LJ,Griffiths WA,Gschmeissner S

更新日期：1995-10-01 00:00:00

abstract：:Limb-girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy are hereditary skeletal muscle disorders caused by mutations in TRIM32. We previously identified TRIM32 as an E3 ubiquitin ligase that binds to myosin and ubiquitinates actin. To date four TRIM32 mutations have been linked to LGMD2H, all of whic...

journal_title：Human molecular genetics

authors： Kudryashova E,Wu J,Havton LA,Spencer MJ

更新日期：2009-04-01 00:00:00

abstract：:Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric Kif17 motor in cilia is poorly understood, whereas Kif7 is known to play an importan...

journal_title：Human molecular genetics

authors： Schwarz N,Lane A,Jovanovic K,Parfitt DA,Aguila M,Thompson CL,da Cruz L,Coffey PJ,Chapple JP,Hardcastle AJ,Cheetham ME

更新日期：2017-07-01 00:00:00

abstract：:Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization r...

journal_title：Human molecular genetics

authors： Dupé V,Rochard L,Mercier S,Le Pétillon Y,Gicquel I,Bendavid C,Bourrouillou G,Kini U,Thauvin-Robinet C,Bohan TP,Odent S,Dubourg C,David V

更新日期：2011-03-15 00:00:00

abstract：:Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation of α-GalA substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine. Progressive glycolipid storage results in cellular ...

journal_title：Human molecular genetics

authors： Welford RWD,Mühlemann A,Garzotti M,Rickert V,Groenen PMA,Morand O,Üçeyler N,Probst MR

更新日期：2018-10-01 00:00:00

abstract：:Huntingtin-associated protein 1 (Hap1) is the first huntingtin interacting protein identified in a yeast two-hybrid screen. Although Hap1 expression has been demonstrated in neuronal and non-neuronal tissues, its molecular role is poorly understood. Recently, it has been shown that targeted disruption of Hap1 in mice ...

journal_title：Human molecular genetics

authors： Dragatsis I,Zeitlin S,Dietrich P

更新日期：2004-12-15 00:00:00

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 extracellular microfibril, 10-14 nm in diameter, performs a number of functions, including serving as the scaffolding for deposition of tropoelastin to form elastic fibers. A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 is encoded by FBN...

journal_title：Human molecular genetics

authors： Dietz HC,Pyeritz RE

更新日期：1995-01-01 00:00:00

abstract：:The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end. We have characterized the expressed gene by means of RT-PCR in various tissues and have found that alternative splicing t...

journal_title：Human molecular genetics

authors： Verkerk AJ,de Graaff E,De Boulle K,Eichler EE,Konecki DS,Reyniers E,Manca A,Poustka A,Willems PJ,Nelson DL

更新日期：1993-04-01 00:00:00

abstract：:Mutations in mitochondrial DNA (mtDNA) are associated with a broad spectrum of clinical disorders. The segregation pattern of pathogenic mtDNAs is an important determinant of both the onset and the severity of the disease phenotype, but the mechanisms controlling mtDNA segregation remain poorly understood. To investig...

journal_title：Human molecular genetics

authors： Battersby BJ,Redpath ME,Shoubridge EA

更新日期：2005-09-01 00:00:00

abstract：:The Taiwan Biobank (TWB) aims to build a nationwide research database that integrates genomic/epigenomic profiles, lifestyle patterns, dietary habits, environmental exposure history and long-term health outcomes of 300,000 residents of Taiwan. We describe here an investigation of the population structure of Han Chines...

journal_title：Human molecular genetics

authors： Chen CH,Yang JH,Chiang CWK,Hsiung CN,Wu PE,Chang LC,Chu HW,Chang J,Song IW,Yang SL,Chen YT,Liu FT,Shen CY

更新日期：2016-12-15 00:00:00

abstract：:Transposable elements (TEs) are major sources of new exons in higher eukaryotes. Almost half of the human genome is derived from TEs, and many types of TEs have the potential to exonize. In this work, we conducted a large-scale analysis of human exons derived from mammalian-wide interspersed repeats (MIRs), a class of...

journal_title：Human molecular genetics

authors： Lin L,Jiang P,Shen S,Sato S,Davidson BL,Xing Y

更新日期：2009-06-15 00:00:00

abstract：:Deficiency of the mitochondrial matrix protein frataxin causes Friedreich ataxia. Frataxin function is believed to be related to mitochondrial iron metabolism and free radical production. In Friedreich ataxia, loss of dorsal root ganglia neurons occurs early in life, suggesting a developmental process. In addition, fr...

journal_title：Human molecular genetics

authors： Santos MM,Ohshima K,Pandolfo M

更新日期：2001-09-01 00:00:00

abstract：:PTEN, a tumor suppressor phosphatase that dephosphorylates both protein and lipid substrates, is mutated in both heritable and sporadic breast cancer. Until recently, PTEN-mediated cell cycle arrest and apoptosis were thought to occur through its well-documented cytoplasmic activities. We have shown that PTEN localize...

journal_title：Human molecular genetics

authors： Chung JH,Ostrowski MC,Romigh T,Minaguchi T,Waite KA,Eng C

更新日期：2006-09-01 00:00:00

abstract：:Mutations in the NF1 tumor suppressor gene cause Neurofibromatosis type 1 (NF1). Neurofibromin, the protein product of NF1, functions as a negative regulator of Ras activity. Some NF1 patients develop cardiovascular disease, which represents an underrecognized disease complication and contributes to excess morbidity a...

journal_title：Human molecular genetics

authors： Stansfield BK,Bessler WK,Mali R,Mund JA,Downing B,Li F,Sarchet KN,DiStasi MR,Conway SJ,Kapur R,Ingram DA Jr

更新日期：2013-03-01 00:00:00