Downstream targets of GWAS-detected genes for breast, lung, and prostate and colon cancer converge to G1/S transition pathway.

abstract：:Grb10-Interacting GYF Protein 2 (GIGYF2) was initially identified through its interaction with Grb10, an adapter protein that binds activated IGF-I and insulin receptors. The GIGYF2 gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of GIGYF2 mutat...

journal_title：Human molecular genetics

authors： Giovannone B,Tsiaras WG,de la Monte S,Klysik J,Lautier C,Karashchuk G,Goldwurm S,Smith RJ

更新日期：2009-12-01 00:00:00

abstract：:One mechanism by which endogenous microRNAs (miRNAs) function is to suppress translation of target mRNAs. Computational identification of target mRNAs is hampered by the partial complementarity between miRNAs and their targets and the lack of in vivo approaches to identify targets. Here, we identify mRNAs that are reg...

journal_title：Human molecular genetics

authors： Nakamoto M,Jin P,O'Donnell WT,Warren ST

更新日期：2005-12-15 00:00:00

abstract：:Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration, and admixture. Ethnically diverse African populations harbor extremely high levels of genetic and phenotypic diversity, and skin pigmentation varies widely across Africa. Recent geno...

journal_title：Human molecular genetics

authors： Feng Y,McQuillan MA,Tishkoff SA

更新日期：2021-01-12 00:00:00

abstract：:Polyglutamine diseases are a family of nine neurodegenerative disorders caused by expansion in different genes of a CAG triplet repeat stretch, which encodes an elongated polyglutamine tract. This polyglutamine tract is thought to confer a toxic gain of function to the bearing proteins, which leads to late onset and p...

journal_title：Human molecular genetics

authors： Pennuto M,Palazzolo I,Poletti A

更新日期：2009-04-15 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：:Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited retinal degeneration. Gene replacement therapy for RPGR-XLRP was hampered by the relatively slow disease progression in mouse models and by difficulties in cloning the...

journal_title：Human molecular genetics

authors： Wu Z,Hiriyanna S,Qian H,Mookherjee S,Campos MM,Gao C,Fariss R,Sieving PA,Li T,Colosi P,Swaroop A

更新日期：2015-07-15 00:00:00

abstract：:Coronary heart disease (CHD) is the leading cause of death worldwide. Mitochondrial genetic determinant for the development of CHD remains poorly explored. We report there the clinical, genetic, molecular and biochemical characterization of a four-generation Chinese family with maternally inherited CHD. Thirteen of 32...

journal_title：Human molecular genetics

authors： Jia Z,Wang X,Qin Y,Xue L,Jiang P,Meng Y,Shi S,Wang Y,Qin Mo J,Guan MX

更新日期：2013-10-15 00:00:00

abstract：:Autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by mutations in the Aquaporin-2 (AQP2) gene. Analysis of a new family with dominant NDI revealed a single nucleotide deletion (727deltaG) in one AQP2 allele, which encoded ...

journal_title：Human molecular genetics

authors： Marr N,Bichet DG,Lonergan M,Arthus MF,Jeck N,Seyberth HW,Rosenthal W,van Os CH,Oksche A,Deen PM

更新日期：2002-04-01 00:00:00

abstract：:Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. We found that the most prevalent dyskerin mutation in DC (A353V) did not affect formation of...

journal_title：Human molecular genetics

authors： Trahan C,Martel C,Dragon F

更新日期：2010-03-01 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：:The congenital malformation split hand/foot (SHFM) is characterized by missing central fingers and dysmorphology or fusion of the remaining ones. Type-1 SHFM is linked to deletions/rearrangements of the DLX5-DLX6 locus and point mutations in the DLX5 gene. The ectrodactyly phenotype is reproduced in mice by the double...

journal_title：Human molecular genetics

authors： Conte D,Garaffo G,Lo Iacono N,Mantero S,Piccolo S,Cordenonsi M,Perez-Morga D,Orecchia V,Poli V,Merlo GR

更新日期：2016-02-15 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：:Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to s...

journal_title：Human molecular genetics

authors： Sankila EM,Pakarinen L,Kääriäinen H,Aittomäki K,Karjalainen S,Sistonen P,de la Chapelle A

更新日期：1995-01-01 00:00:00

abstract：:The gene B lymphocyte kinase (BLK) is associated with rheumatoid arthritis, systemic lupus erythematosus and several other autoimmune disorders. The disease risk haplotype is known to be associated with reduced expression of BLK mRNA transcript in human B cell lines; however, little is known about cis-regulation of BL...

journal_title：Human molecular genetics

authors： Simpfendorfer KR,Olsson LM,Manjarrez Orduño N,Khalili H,Simeone AM,Katz MS,Lee AT,Diamond B,Gregersen PK

更新日期：2012-09-01 00:00:00

abstract：:Although the varepsilon4 allele of the apolipoprotein E gene appears as an important biological marker for Alzheimer's disease (AD) susceptibility, other genetic determinants are clearly implicated in the AD process. Here, we propose that a genetic variation in the transcriptional factor LBP-1c/CP2/LSF gene, located c...

journal_title：Human molecular genetics

authors： Lambert JC,Goumidi L,Vrièze FW,Frigard B,Harris JM,Cummings A,Coates J,Pasquier F,Cottel D,Gaillac M,St Clair D,Mann DM,Hardy J,Lendon CL,Amouyel P,Chartier-Harlin MC

更新日期：2000-09-22 00:00:00

abstract：:Huntington's disease is caused by an expanded polyglutamine tract in huntingtin protein, leading to accumulation of huntingtin in the nuclei of striatal neurons. The 18 amino-acid amino-terminus of huntingtin is an amphipathic alpha helical membrane-binding domain that can reversibly target to vesicles and the endopla...

journal_title：Human molecular genetics

authors： Atwal RS,Xia J,Pinchev D,Taylor J,Epand RM,Truant R

更新日期：2007-11-01 00:00:00

abstract：:Human gene expression traits have been shown to be dependent on gender, age and time of day in blood and other tissues. However, other factors that may impact gene expression have not been systematically explored. For example, in studies linking blood gene expression to obesity related traits, whether the fasted or fe...

journal_title：Human molecular genetics

authors： Leonardson AS,Zhu J,Chen Y,Wang K,Lamb JR,Reitman M,Emilsson V,Schadt EE

更新日期：2010-01-01 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 00:00:00

abstract：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, ...

journal_title：Human molecular genetics

authors： Edelmann L,Pandita RK,Spiteri E,Funke B,Goldberg R,Palanisamy N,Chaganti RS,Magenis E,Shprintzen RJ,Morrow BE

更新日期：1999-07-01 00:00:00

abstract：:Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determ...

journal_title：Human molecular genetics

authors： Petty LE,Highland HM,Gamazon ER,Hu H,Karhade M,Chen HH,de Vries PS,Grove ML,Aguilar D,Bell GI,Huff CD,Hanis CL,Doddapaneni H,Munzy DM,Gibbs RA,Ma J,Parra EJ,Cruz M,Valladares-Salgado A,Arking DE,Barbeira A,Im HK

更新日期：2019-04-01 00:00:00

abstract：:Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are two human autosomal dominant skeletal dysplasias characterized by variable short stature, joint laxity and early-onset degenerative joint disease. Both disorders can result from mut-ations in the gene for cartilage oligomeric matrix protein (COMP...

journal_title：Human molecular genetics

authors： Délot E,King LM,Briggs MD,Wilcox WR,Cohn DH

更新日期：1999-01-01 00:00:00

abstract：:Reduced activity of beta4-galactosyltransferase 7 (beta4GalT-7), an enzyme involved in synthesizing the glycosaminoglycan linkage region of proteoglycans, is associated with the progeroid form of Ehlers-Danlos syndrome (EDS). In the invertebrates Drosophila melanogaster and Caenorhabditis elegans, mutations in beta4Ga...

journal_title：Human molecular genetics

authors： Götte M,Spillmann D,Yip GW,Versteeg E,Echtermeyer FG,van Kuppevelt TH,Kiesel L

更新日期：2008-04-01 00:00:00

abstract：:Human homologues of mouse cancer modifier genes may play a role in cancer risk and prognosis. A proportion of the familial risk of common cancers may be attributable to variants in such genes, each contributing to a small effect. The protein tyrosine phosphatase receptor type J (PTPRJ) has been recently identified as ...

journal_title：Human molecular genetics

authors： Lesueur F,Pharoah PD,Laing S,Ahmed S,Jordan C,Smith PL,Luben R,Wareham NJ,Easton DF,Dunning AM,Ponder BA

更新日期：2005-08-15 00:00:00

abstract：:TMEM70, a 21-kDa protein localized in the inner mitochondrial membrane, has been shown to facilitate the biogenesis of mammalian F1Fo ATP synthase. Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficiency resulting in a severe mitochondrial disease presenting as neonatal encep...

journal_title：Human molecular genetics

authors： Vrbacký M,Kovalčíková J,Chawengsaksophak K,Beck IM,Mráček T,Nůsková H,Sedmera D,Papoušek F,Kolář F,Sobol M,Hozák P,Sedlacek R,Houštěk J

更新日期：2016-11-01 00:00:00

abstract：:Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example ...

journal_title：Human molecular genetics

authors： Laufer BI,Hwang H,Jianu JM,Mordaunt CE,Korf IF,Hertz-Picciotto I,LaSalle JM

更新日期：2021-01-06 00:00:00

abstract：:Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as multiple sclerosis (MS). As a large proportion of expression quantitative trait loci (eQTLs) are...

journal_title：Human molecular genetics

authors： James T,Lindén M,Morikawa H,Fernandes SJ,Ruhrmann S,Huss M,Brandi M,Piehl F,Jagodic M,Tegnér J,Khademi M,Olsson T,Gomez-Cabrero D,Kockum I

更新日期：2018-03-01 00:00:00

abstract：:Gamma glutamyl cysteine ligase (GCL) is the rate-limiting enzyme for intracellular glutathione (GSH) synthesis. The GSH concentration and GCL activity are declining with age in the central nervous system (CNS), and is accompanied by elevated reactive oxygen species (ROS). To study the biological effects of low GSH lev...

journal_title：Human molecular genetics

authors： Feng W,Rosca M,Fan Y,Hu Y,Feng P,Lee HG,Monnier VM,Fan X

更新日期：2017-04-01 00:00:00

abstract：:Osteoarthritis is a common, complex disease with no curative therapy. In this review, we summarize current knowledge on disease aetiopathogenesis and outline genetics and genomics approaches that are helping catalyse a much-needed improved understanding of the biological underpinning of disease development and progres...

journal_title：Human molecular genetics

authors： Cibrián Uhalte E,Wilkinson JM,Southam L,Zeggini E

更新日期：2017-10-01 00:00:00

abstract：:First- and second-generation sequencing technologies have led the way in revolutionizing the field of genomics and beyond, motivating an astonishing number of scientific advances, including enabling a more complete understanding of whole genome sequences and the information encoded therein, a more complete characteriz...

journal_title：Human molecular genetics

authors： Schadt EE,Turner S,Kasarskis A

更新日期：2010-10-15 00:00:00