Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

abstract：:Parkinson disease (PD) is the second most common neurodegenerative disorder. We studied 754 affected individuals, comprising 425 sibling pairs, to identify PD susceptibility genes. Screening of the parkin gene was performed in a subset of the sample having earlier age of PD onset or a positive LOD score with a marker ...

journal_title：Human molecular genetics

authors： Pankratz N,Nichols WC,Uniacke SK,Halter C,Murrell J,Rudolph A,Shults CW,Conneally PM,Foroud T,Parkinson Study Group.

更新日期：2003-10-15 00:00:00

abstract：:Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents ...

journal_title：Human molecular genetics

authors： Yang GC,Croaker D,Zhang AL,Manglick P,Cartmill T,Cass D

更新日期：1998-06-01 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：:A susceptibility locus for coronary artery disease (CAD) at chromosome 9p21 has recently been reported, which may influence the age of onset of CAD. We sought to replicate these findings among white subjects and to examine whether these results are consistent with other racial/ethnic groups by genotyping three single ...

journal_title：Human molecular genetics

authors： Assimes TL,Knowles JW,Basu A,Iribarren C,Southwick A,Tang H,Absher D,Li J,Fair JM,Rubin GD,Sidney S,Fortmann SP,Go AS,Hlatky MA,Myers RM,Risch N,Quertermous T

更新日期：2008-08-01 00:00:00

abstract：:p53 is one of the most important known tumor suppressor genes, and it is inactivated in approximately half of human cancers. p53 family members execute various functions, such as apoptosis induction and cell cycle arrest, by modulating transcriptional regulation. Therefore, the direct transcriptional targets of the p5...

journal_title：Human molecular genetics

authors： Idogawa M,Ohashi T,Sasaki Y,Maruyama R,Kashima L,Suzuki H,Tokino T

更新日期：2014-06-01 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：:DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining (NHEJ), a well-orchestrated, multistep process involving numerous proteins essential for cell viability, represents one major pathway to repair DSBs in mammalian c...

journal_title：Human molecular genetics

authors： Rosin N,Elcioglu NH,Beleggia F,Isgüven P,Altmüller J,Thiele H,Steindl K,Joset P,Rauch A,Nürnberg P,Wollnik B,Yigit G

更新日期：2015-07-01 00:00:00

abstract：:Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined with exome sequencin...

journal_title：Human molecular genetics

authors： Biswas P,Chavali VR,Agnello G,Stone E,Chakarova C,Duncan JL,Kannabiran C,Homsher M,Bhattacharya SS,Naeem MA,Kimchi A,Sharon D,Iwata T,Riazuddin S,Reddy GB,Hejtmancik JF,Georgiou G,Riazuddin SA,Ayyagari R

更新日期：2016-06-15 00:00:00

abstract：:Osteoarthritis (OA), a common skeletal disease, is a leading cause of disability among the elderly populations. OA is characterized by gradual loss of articular cartilage, but the etiology and pathogenesis of OA are largely unknown. Epidemiological and genetic studies have demonstrated that genetic factors play an imp...

journal_title：Human molecular genetics

authors： Mototani H,Mabuchi A,Saito S,Fujioka M,Iida A,Takatori Y,Kotani A,Kubo T,Nakamura K,Sekine A,Murakami Y,Tsunoda T,Notoya K,Nakamura Y,Ikegawa S

更新日期：2005-04-15 00:00:00

abstract：:Little is known about the post-transcriptional mechanisms that modulate the genetic effects in the molecular pathways underlying Alzheimer disease (AD), and even less is known about how these changes might differ across diverse populations. RNA editing, the process that alters individual bases of RNA, may contribute t...

journal_title：Human molecular genetics

authors： Gardner OK,Wang L,Van Booven D,Whitehead PL,Hamilton-Nelson KL,Adams LD,Starks TD,Hofmann NK,Vance JM,Cuccaro ML,Martin ER,Byrd GS,Haines JL,Bush WS,Beecham GW,Pericak-Vance MA,Griswold AJ

更新日期：2019-09-15 00:00:00

abstract：:Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA polymerase inhibitor, aphidicolin (APH), slows the replication rate throughout S phase. To investigate the unusual sensi...

journal_title：Human molecular genetics

authors： Palakodeti A,Lucas I,Jiang Y,Young DJ,Fernald AA,Karrison T,Le Beau MM

更新日期：2010-01-01 00:00:00

abstract：:Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring...

journal_title：Human molecular genetics

authors： Raimondo A,Chakera AJ,Thomsen SK,Colclough K,Barrett A,De Franco E,Chatelas A,Demirbilek H,Akcay T,Alawneh H,International NDM Consortium.,Flanagan SE,Van De Bunt M,Hattersley AT,Gloyn AL,Ellard S,International NDM Consor

更新日期：2014-12-15 00:00:00

abstract：:The vast majority of Friedreich ataxia patients are homozygous for large GAA triplet repeat expansions in intron 1 of the X25 gene. Instability of the expanded GAA repeat was examined in 23 chromosomes bearing 97-1250 triplets in lymphoblastoid cell lines passaged 20-39 times. Southern analyses revealed 18 events of s...

journal_title：Human molecular genetics

authors： Bidichandani SI,Purandare SM,Taylor EE,Gumin G,Machkhas H,Harati Y,Gibbs RA,Ashizawa T,Patel PI

更新日期：1999-12-01 00:00:00

abstract：:Glycosylation with O-linked β-N-acetylglucosamine (O-GlcNAc) is one of the protein glycosylations affecting various intracellular events. However, the role of O-GlcNAcylation in neurodegenerative diseases such as Alzheimer's disease (AD) is poorly understood. Mitochondrial adenosine 5'-triphosphate (ATP) synthase is a...

journal_title：Human molecular genetics

authors： Cha MY,Cho HJ,Kim C,Jung YO,Kang MJ,Murray ME,Hong HS,Choi YJ,Choi H,Kim DK,Choi H,Kim J,Dickson DW,Song HK,Cho JW,Yi EC,Kim J,Jin SM,Mook-Jung I

更新日期：2015-11-15 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：:The aim of this study was to investigate the possible role of STAT4 gene in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. A total of 1317 SSc patients [896 with limited cutaneous SSc (lcSSc) and 421 with diffuse cutaneous SSc (dcSSc)] and 3113 healthy controls, from an in...

journal_title：Human molecular genetics

authors： Rueda B,Broen J,Simeon C,Hesselstrand R,Diaz B,Suárez H,Ortego-Centeno N,Riemekasten G,Fonollosa V,Vonk MC,van den Hoogen FH,Sanchez-Román J,Aguirre-Zamorano MA,García-Portales R,Pros A,Camps MT,Gonzalez-Gay MA,Coenen M

更新日期：2009-06-01 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the inheritance of both homologs of a given genomic region from only one parent. The majority of UPD includes an entire chromosome. However, the extent of UPD is sometimes limited to a subchromosomal region (segmental UPD). Mosaic paternal UPD (pUPD) of chromosome 11 is found in ...

journal_title：Human molecular genetics

authors： Ohtsuka Y,Higashimoto K,Oka T,Yatsuki H,Jozaki K,Maeda T,Kawahara K,Hamasaki Y,Matsuo M,Nishioka K,Joh K,Mukai T,Soejima H

更新日期：2016-04-01 00:00:00

abstract：:DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. A critical region of 500 kb has been delimited within which maps the breakpoint of a balanced translocation associated with mild CATCH 22 phenotypes. We report the isolation from this critical re...

journal_title：Human molecular genetics

authors： Demczuk S,Thomas G,Aurias A

更新日期：1996-05-01 00:00:00

abstract：:Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...

journal_title：Human molecular genetics

authors： Kist R,Watson M,Wang X,Cairns P,Miles C,Reid DJ,Peters H

更新日期：2005-12-01 00:00:00

abstract：:Aneuploidy is prevalent in human embryos and is the leading cause of pregnancy loss. Many aneuploidies arise during oogenesis, increasing with maternal age. Superimposed on these meiotic aneuploidies are frequent errors occurring during early mitotic divisions, contributing to widespread chromosomal mosaicism. Here we...

journal_title：Human molecular genetics

authors： McCoy RC,Newnham LJ,Ottolini CS,Hoffmann ER,Chatzimeletiou K,Cornejo OE,Zhan Q,Zaninovic N,Rosenwaks Z,Petrov DA,Demko ZP,Sigurjonsson S,Handyside AH

更新日期：2018-07-15 00:00:00

abstract：:Dilated cardiomyopathy (DCM) due to mutations in RBM20, a gene encoding an RNA-binding protein, is associated with high familial penetrance, risk of progressive heart failure and sudden death. Although genetic investigations and physiological models have established the linkage of RBM20 with early-onset DCM, the under...

journal_title：Human molecular genetics

authors： Beraldi R,Li X,Martinez Fernandez A,Reyes S,Secreto F,Terzic A,Olson TM,Nelson TJ

更新日期：2014-07-15 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：:Differential allelic expression has been shown to be common in mice, humans and maize, and variability in the expression of polymorphic alleles has been associated with human disease. Here, we describe the differential expression pattern of Paraoxonase-1, a gene involved in lipid metabolism and implicated in the forma...

journal_title：Human molecular genetics

authors： Parker-Katiraee L,Bousiaki E,Monk D,Moore GE,Nakabayashi K,Scherer SW

更新日期：2008-11-01 00:00:00

abstract：:Lung cancer is the leading cause of cancer death in North America. Despite advances in lung cancer treatment, the overall 5 year survival rate for those diagnosed with the disease is bleak presumably due to the late stage of diagnosis. Owing to the difficulty of early detection, preneoplastic specimens are rare. Howev...

journal_title：Human molecular genetics

authors： Garnis C,Campbell J,Davies JJ,Macaulay C,Lam S,Lam WL

更新日期：2005-02-15 00:00:00

abstract：:Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. Most of these mutations are found in the third exon of the gene encoding the olfactomedin-like domain located at the C terminus of the protein. Another o...

journal_title：Human molecular genetics

authors： Torrado M,Trivedi R,Zinovieva R,Karavanova I,Tomarev SI

更新日期：2002-05-15 00:00:00

abstract：:To further identify novel susceptibility loci of nasopharyngeal carcinoma (NPC), we here extended our previous genome-wide association study (GWAS) by boosting statistical power with larger sample size and validating more SNPs in the ranking list based on the GWAS P-values. The discovery stage consisting of 463,250 SN...

journal_title：Human molecular genetics

authors： Cui Q,Feng QS,Mo HY,Sun J,Xia YF,Zhang H,Foo JN,Guo YM,Chen LZ,Li M,Liu WS,Xu M,Zhou G,He F,Yu X,Jia WH,Liu J,Zeng YX,Bei JX

更新日期：2016-08-15 00:00:00

abstract：:Proteins with iron-sulfur (Fe-S) clusters participate in multiple metabolic pathways throughout the cell. The mitochondrial ABC half-transporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functional ortholog of yeast Atm1p and is predicted to export a mitochondrially derived m...

journal_title：Human molecular genetics

authors： Pondarré C,Antiochos BB,Campagna DR,Clarke SL,Greer EL,Deck KM,McDonald A,Han AP,Medlock A,Kutok JL,Anderson SA,Eisenstein RS,Fleming MD

更新日期：2006-03-15 00:00:00

abstract：:Linkage analysis of type 1 diabetes sib pair families (n = 334) has suggested two separate regions of human chromosome 6q are linked to disease (designated IDDM5 and IDDM8). To test if these are false positive results, all available sib pair families (n = 429) were typed using a 92% informative map of chromosome 6q an...

journal_title：Human molecular genetics

authors： Davies JL,Cucca F,Goy JV,Atta ZA,Merriman ME,Wilson A,Barnett AH,Bain SC,Todd JA

更新日期：1996-07-01 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：:DNA methylation (DNAm) has been linked to changes in chromatin structure, gene expression and disease. The DNAm level can be affected by genetic variation; although, how this differs by CpG dinucleotide density and genic location of the DNAm site is not well understood. Moreover, the effect of disease causing variants...

journal_title：Human molecular genetics

authors： Rowlatt A,Hernández-Suárez G,Sanabria-Salas MC,Serrano-López M,Rawlik K,Hernandez-Illan E,Alenda C,Castillejo A,Soto JL,Haley CS,Tenesa A

更新日期：2016-06-15 00:00:00