A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

abstract：:Despite extensive progress in Huntington's disease (HD) research, very little is known about the association of epigenetic variation and HD pathogenesis in human brain tissues. Moreover, its contribution to the tissue-specific transcriptional regulation of the huntingtin gene (HTT), in which HTT expression levels are ...

journal_title：Human molecular genetics

authors： De Souza RA,Islam SA,McEwen LM,Mathelier A,Hill A,Mah SM,Wasserman WW,Kobor MS,Leavitt BR

更新日期：2016-05-15 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：:The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for germline mutations in these genes in 35 HNPCC kindreds fulfilling the Amsterdam diagnostic criteria and in a further 20 kindreds with an average of four affect...

journal_title：Human molecular genetics

authors： Nyström-Lahti M,Wu Y,Moisio AL,Hofstra RM,Osinga J,Mecklin JP,Järvinen HJ,Leisti J,Buys CH,de la Chapelle A,Peltomäki P

更新日期：1996-06-01 00:00:00

abstract：:Protein-protein interactions are fundamental to all biological processes, and a comprehensive determination of all protein-protein interactions that can take place in an organism provides a framework for understanding biology as an integrated system. The availability of genome-scale sets of cloned open reading frames ...

journal_title：Human molecular genetics

authors： Cusick ME,Klitgord N,Vidal M,Hill DE

更新日期：2005-10-15 00:00:00

abstract：:The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the localization of a human gene for neurosensory, nonsyndromic recessive deafness (NSRD2) to chromosome 11q13.5 by linkage a...

journal_title：Human molecular genetics

authors： Guilford P,Ayadi H,Blanchard S,Chaib H,Le Paslier D,Weissenbach J,Drira M,Petit C

更新日期：1994-06-01 00:00:00

abstract：:Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

journal_title：Human molecular genetics

authors： Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

更新日期：2015-02-15 00:00:00

abstract：:Blood levels of adiponectin, an adipocyte-secreted protein correlated with metabolic and cardiovascular risks, are highly heritable. Genome-wide association (GWA) studies for adiponectin levels have identified 14 loci harboring variants associated with blood levels of adiponectin. To identify novel adiponectin-associa...

journal_title：Human molecular genetics

authors： Wu Y,Gao H,Li H,Tabara Y,Nakatochi M,Chiu YF,Park EJ,Wen W,Adair LS,Borja JB,Cai Q,Chang YC,Chen P,Croteau-Chonka DC,Fogarty MP,Gan W,He CT,Hsiung CA,Hwu CM,Ichihara S,Igase M,Jo J,Kato N,Kawamoto R,Kuzawa

更新日期：2014-02-15 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are the two common neurodegenerative diseases that have been associated with the GGGGCC·GGCCCC repeat RNA expansion in a noncoding region of C9orf72. It has been previously reported that unconventional repeat-associated non-ATG (RAN) translation of ...

journal_title：Human molecular genetics

authors： Tao Z,Wang H,Xia Q,Li K,Li K,Jiang X,Xu G,Wang G,Ying Z

更新日期：2015-05-01 00:00:00

abstract：:We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, ind...

journal_title：Human molecular genetics

authors： Forbes JR,Cox DW

更新日期：2000-08-12 00:00:00

abstract：:In model organisms, over 2,000 genes have been shown to modulate aging, the collection of which we call the ‘gerontome’. Although some individual aging-related genes have been the subject of intense scrutiny, their analysis as a whole has been limited. In particular, the genetic interaction of aging and age-related pa...

journal_title：Human molecular genetics

authors： Fernandes M,Wan C,Tacutu R,Barardo D,Rajput A,Wang J,Thoppil H,Thornton D,Yang C,Freitas A,de Magalhães JP

更新日期：2016-11-01 00:00:00

abstract：:The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulgaria which is situated ...

journal_title：Human molecular genetics

authors： Savov A,Mercier B,Kalaydjieva L,Férec C

更新日期：1994-01-01 00:00:00

abstract：:The transient receptor potential vanilloid 1 (TRPV1) protein is a pain receptor that elicits a hot sensation when an organism eats the capsaicin of red chili peppers. This calcium (Ca2+)-permeable cation channel is mostly expressed in the peripheral nervous system sensory neurons but also in the central nervous system...

journal_title：Human molecular genetics

authors： Kim J,Lee S,Kim J,Ham S,Park JHY,Han S,Jung YK,Shim I,Han JS,Lee KW,Kim J

更新日期：2020-01-15 00:00:00

abstract：:The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards ...

journal_title：Human molecular genetics

authors： Visentin C,Pellistri F,Natalello A,Vertemara J,Bonanomi M,Gatta E,Penco A,Relini A,De Gioia L,Airoldi C,Regonesi ME,Tortora P

更新日期：2017-09-01 00:00:00

abstract：:Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified fro...

journal_title：Human molecular genetics

authors： Li N,Rosenblatt DS,Kamen BA,Seetharam S,Seetharam B

更新日期：1994-10-01 00:00:00

abstract：:During human spermatogenesis, germ cells undergo dynamic changes in chromatin organization/re-packaging and in transcriptomes. In order to better understand the underlying mechanism(s), scATAC-Seq of 5376 testicular cells from 3 normal men were performed. Data were analyzed in parallel with the scRNA-Seq data of human...

journal_title：Human molecular genetics

authors： Wu X,Lu M,Yun D,Gao S,Chen S,Hu L,Wu Y,Wang X,Duan E,Cheng CY,Sun F

更新日期：2021-01-12 00:00:00

abstract：:A cluster of imprinted genes on human chromosome 15q11-q13 (the PWS/AS domain) and its ortholog on mouse chromosome 7c is believed to be regulated by an imprinting control center. Although minideletions in this region in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) patients revealed that two elements, shorte...

journal_title：Human molecular genetics

authors： Kantor B,Makedonski K,Green-Finberg Y,Shemer R,Razin A

更新日期：2004-04-01 00:00:00

abstract：:The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, wer...

journal_title：Human molecular genetics

authors： Gilad S,Bar-Shira A,Harnik R,Shkedy D,Ziv Y,Khosravi R,Brown K,Vanagaite L,Xu G,Frydman M,Lavin MF,Hill D,Tagle DA,Shiloh Y

更新日期：1996-12-01 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP...

journal_title：Human molecular genetics

authors： Micucci JA,Layman WS,Hurd EA,Sperry ED,Frank SF,Durham MA,Swiderski DL,Skidmore JM,Scacheri PC,Raphael Y,Martin DM

更新日期：2014-01-15 00:00:00

abstract：:Three distinct regions, designated AZFa, b and c from proximal to distal Yq, are required for normal spermato-genesis in humans. Deletions involving AZFa (deletion interval 5C/D) seem to occur less frequently in infertile men and to be associated with a more severe testicular phenotype, with almost complete absence of...

journal_title：Human molecular genetics

authors： Foresta C,Ferlin A,Moro E

更新日期：2000-05-01 00:00:00

abstract：:An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...

journal_title：Human molecular genetics

authors： Lee YB,Baskaran P,Gomez-Deza J,Chen HJ,Nishimura AL,Smith BN,Troakes C,Adachi Y,Stepto A,Petrucelli L,Gallo JM,Hirth F,Rogelj B,Guthrie S,Shaw CE

更新日期：2017-12-15 00:00:00

abstract：:The Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL) belongs to the neuronal ceroid lipofuscinosis group of common recessively inherited neurodegenerative disorders. The CLN 5 gene responsible for this brain disorder codes for a novel protein with no homology to previously reported proteins. In t...

journal_title：Human molecular genetics

authors： Isosomppi J,Vesa J,Jalanko A,Peltonen L

更新日期：2002-04-15 00:00:00

abstract：:Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH...

journal_title：Human molecular genetics

authors： Eichinger A,Danecka MK,Möglich T,Borsch J,Woidy M,Büttner L,Muntau AC,Gersting SW

更新日期：2018-05-15 00:00:00

abstract：:Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we use...

journal_title：Human molecular genetics

authors： Miller EE,Kobayashi GS,Musso CM,Allen M,Ishiy FAA,de Caires LC Jr,Goulart E,Griesi-Oliveira K,Zechi-Ceide RM,Richieri-Costa A,Bertola DR,Passos-Bueno MR,Silver DL

更新日期：2017-06-15 00:00:00

abstract：:Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy that results from small expansions of a polyalanine tract in the PABPN1 gene. Intranuclear inclusions are the pathological hallmark of OPMD. The mechanism by which protein aggregation in OPMD might relate to a toxic gain-of...

journal_title：Human molecular genetics

authors： Abu-Baker A,Messaed C,Laganiere J,Gaspar C,Brais B,Rouleau GA

更新日期：2003-10-15 00:00:00

abstract：:We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...

journal_title：Human molecular genetics

authors： Holt IJ,Dunbar DR,Jacobs HT

更新日期：1997-08-01 00:00:00

abstract：:Protein translation is an essential cellular process initiated by the association of a methionyl-tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex...

journal_title：Human molecular genetics

authors： Kernohan KD,Tétreault M,Liwak-Muir U,Geraghty MT,Qin W,Venkateswaran S,Davila J,Care4Rare Canada Consortium.,Holcik M,Majewski J,Richer J,Boycott KM

更新日期：2015-11-15 00:00:00

abstract：:LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommo...

journal_title：Human molecular genetics

authors： Garcia-Perez JL,Marchetto MC,Muotri AR,Coufal NG,Gage FH,O'Shea KS,Moran JV

更新日期：2007-07-01 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：:Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe myopia. We performed w...

journal_title：Human molecular genetics

authors： Beleggia F,Li Y,Fan J,Elcioğlu NH,Toker E,Wieland T,Maumenee IH,Akarsu NA,Meitinger T,Strom TM,Lang R,Wollnik B

更新日期：2015-04-15 00:00:00

abstract：:Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. To facilitate the identification of disease-causing mutations in the CPT II gene (CPT1), we have established the genomic organization of this gene. CPT1 spans approximately 20 kb of 1...

journal_title：Human molecular genetics

authors： Verderio E,Cavadini P,Montermini L,Wang H,Lamantea E,Finocchiaro G,DiDonato S,Gellera C,Taroni F

更新日期：1995-01-01 00:00:00