Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

abstract：:Plasmalogens, the most prominent ether (phospho)lipids in mammals, are structural components of most cellular membranes. Due to their physicochemical properties and abundance in the central nervous system, a role of plasmalogens in neurotransmission has been proposed, but conclusive data are lacking. Here, we targeted...

journal_title：Human molecular genetics

authors： Dorninger F,König T,Scholze P,Berger ML,Zeitler G,Wiesinger C,Gundacker A,Pollak DD,Huck S,Just WW,Forss-Petter S,Pifl C,Berger J

更新日期：2019-06-15 00:00:00

abstract：:Human cytidine deaminase APOBEC3G and the virion infectivity factor (vif) of the human immunodeficiency virus (HIV) are a pair of antagonistic molecules. In the absence of vif, APOBEC3G induces a high rate of dC to dU mutations in the nascent reverse transcripts of HIV that leads to the degradation of the HIV genome. ...

journal_title：Human molecular genetics

authors： Zhang J,Webb DM

更新日期：2004-08-15 00:00:00

abstract：:Dominant mutations in the mitochondrial paralogs coiled-helix-coiled-helix (CHCHD) domain 2 (C2) and CHCHD10 (C10) were recently identified as causing Parkinson's disease and amyotrophic lateral sclerosis/frontotemporal dementia/myopathy, respectively. The mechanism by which they disrupt mitochondrial cristae, however...

journal_title：Human molecular genetics

authors： Liu YT,Huang X,Nguyen D,Shammas MK,Wu BP,Dombi E,Springer DA,Poulton J,Sekine S,Narendra DP

更新日期：2020-06-03 00:00:00

abstract：:Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a distinct variant within this group of autosomal recessive blistering skin diseases. In this study we demonstrate, for the first time, a homozygous mutation in the alpha6 integrin gene (ITGA6) in a family with three affected individuals. ...

journal_title：Human molecular genetics

authors： Pulkkinen L,Kimonis VE,Xu Y,Spanou EN,McLean WH,Uitto J

更新日期：1997-05-01 00:00:00

abstract：:Subcortical band heterotopia (SBH) are bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface, which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malformations. Mutations in DCX (also known as XLIS ) hav...

journal_title：Human molecular genetics

authors： Pilz DT,Kuc J,Matsumoto N,Bodurtha J,Bernadi B,Tassinari CA,Dobyns WB,Ledbetter DH

更新日期：1999-09-01 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：:Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 resulting in hyperactivity of the mammalian target of rapamycin and disabling brain lesions. These lesions contain misplaced neurons enriched in hypoxia-inducible factor 1a (HIF1a). However, the relationship between TSC1/2 and H...

journal_title：Human molecular genetics

authors： Feliciano DM,Zhang S,Quon JL,Bordey A

更新日期：2013-05-01 00:00:00

abstract：:We have constructed a YAC contig containing 54 clones and a minimum of 7 Mbp of human DNA, that maps to bands q34-35 on chromosome 5. The contig was nucleated using FISH mapped cosmid clones shown to flank the t(2;5)(p23;q35) translocation breakpoint in a CD30-positive large cell lymphoma cell line. Thirty of the 54 Y...

journal_title：Human molecular genetics

authors： Lu-Kuo JM,Le Paslier D,Weissenbach J,Chumakov I,Cohen D,Ward DC

更新日期：1994-01-01 00:00:00

abstract：:Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotroph...

journal_title：Human molecular genetics

authors： Ribasés M,Gratacòs M,Fernández-Aranda F,Bellodi L,Boni C,Anderluh M,Cavallini MC,Cellini E,Di Bella D,Erzegovesi S,Foulon C,Gabrovsek M,Gorwood P,Hebebrand J,Hinney A,Holliday J,Hu X,Karwautz A,Kipman A,Komel R,Na

更新日期：2004-06-15 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：:Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations is of major diagnos...

journal_title：Human molecular genetics

authors： Smith PM,Elson JL,Greaves LC,Wortmann SB,Rodenburg RJ,Lightowlers RN,Chrzanowska-Lightowlers ZM,Taylor RW,Vila-Sanjurjo A

更新日期：2014-02-15 00:00:00

abstract：:Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in huma...

journal_title：Human molecular genetics

authors： Murdoch JN,Henderson DJ,Doudney K,Gaston-Massuet C,Phillips HM,Paternotte C,Arkell R,Stanier P,Copp AJ

更新日期：2003-01-15 00:00:00

abstract：:Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombinatio...

journal_title：Human molecular genetics

authors： Joubert R,Vignaud A,Le M,Moal C,Messaddeq N,Buj-Bello A

更新日期：2013-05-01 00:00:00

abstract：:Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two clo...

journal_title：Human molecular genetics

authors： Liu C,Bakeri H,Li T,Swaroop A

更新日期：2012-04-15 00:00:00

abstract：:The DAZ gene cluster on the human Y chromosome is a candidate for the Azoospermia Factor (AZFc). According to the current evolutionary model, the DAZ cluster derived from the autosomal homolog DAZL1 through duplications and rearrangements and is confined to Old World monkeys, apes and humans. To study functional and e...

journal_title：Human molecular genetics

authors： Gromoll J,Weinbauer GF,Skaletsky H,Schlatt S,Rocchietti-March M,Page DC,Nieschlag E

更新日期：1999-10-01 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：:Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Previous data have shown that MECP2 RNA is present in all mouse and human tissues tested, but the timing of expression and regional distribution have not been explored. We investigated the spatial...

journal_title：Human molecular genetics

authors： Shahbazian MD,Antalffy B,Armstrong DL,Zoghbi HY

更新日期：2002-01-15 00:00:00

abstract：:Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX p...

journal_title：Human molecular genetics

authors： Nakae J,Tajima T,Sugawara T,Arakane F,Hanaki K,Hotsubo T,Igarashi N,Igarashi Y,Ishii T,Koda N,Kondo T,Kohno H,Nakagawa Y,Tachibana K,Takeshima Y,Tsubouchi K,Strauss JF 3rd,Fujieda K

更新日期：1997-04-01 00:00:00

abstract：:Mammalian oocytes are arrested at the prophase of meiosis I during fetal or postnatal development, and the meiosis is resumed by the preovulatory surge of luteinizing hormone. The in vivo functional roles of cyclin-dependent kinases (Cdks) during the resumption of meiosis in mammalian oocytes are largely unknown. Prev...

journal_title：Human molecular genetics

authors： Adhikari D,Zheng W,Shen Y,Gorre N,Ning Y,Halet G,Kaldis P,Liu K

更新日期：2012-06-01 00:00:00

abstract：:Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated wit...

journal_title：Human molecular genetics

authors： Bradfield JP,Vogelezang S,Felix JF,Chesi A,Helgeland Ø,Horikoshi M,Karhunen V,Lowry E,Cousminer DL,Ahluwalia TS,Thiering E,Boh ET,Zafarmand MH,Vilor-Tejedor N,Wang CA,Joro R,Chen Z,Gauderman WJ,Pitkänen N,Parra EJ,

更新日期：2019-10-01 00:00:00

abstract：:Dysregulation of Fused in Sarcoma (FUS) gene expression is associated with fronto-temporal lobar degeneration (FTLD), and missense mutations in the FUS gene have been identified in patients affected by amyotrophic lateral sclerosis (ALS). However, molecular and cellular defects underlying FUS proteinopathy remain to b...

journal_title：Human molecular genetics

authors： Chen Y,Deng J,Wang P,Yang M,Chen X,Zhu L,Liu J,Lu B,Shen Y,Fushimi K,Xu Q,Wu JY

更新日期：2016-12-01 00:00:00

abstract：:The gene encoding heterogeneous ribonucleoprotein (hnRNP) G recently has been mapped to the X chromosome. All mammals have a Y chromosome-encoded homologue of HNRNP G called RBMY, which is implicated with a role in male fertility and is a candidate for the azoospermia factor gene. We have identified a new member of th...

journal_title：Human molecular genetics

authors： Elliott DJ,Venables JP,Newton CS,Lawson D,Boyle S,Eperon IC,Cooke HJ

更新日期：2000-09-01 00:00:00

abstract：:Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the develop...

journal_title：Human molecular genetics

authors： Yajima I,Sato S,Kimura T,Yasumoto K,Shibahara S,Goding CR,Yamamoto H

更新日期：1999-08-01 00:00:00

abstract：:Missense mutations (K141N and K141E) in the alpha-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is curre...

journal_title：Human molecular genetics

authors： Irobi J,Almeida-Souza L,Asselbergh B,De Winter V,Goethals S,Dierick I,Krishnan J,Timmermans JP,Robberecht W,De Jonghe P,Van Den Bosch L,Janssens S,Timmerman V

更新日期：2010-08-15 00:00:00

abstract：:The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q3...

journal_title：Human molecular genetics

authors： Lehmann-Horn F,Mailänder V,Heine R,George AL

更新日期：1995-08-01 00:00:00

abstract：:Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon. AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cau...

journal_title：Human molecular genetics

authors： Ealing J,Webster R,Brownlow S,Abdelgany A,Oosterhuis H,Muntoni F,Vaux DJ,Vincent A,Beeson D

更新日期：2002-11-15 00:00:00

abstract：:Ketosis-prone diabetes (KPD) is a rare form of type 2 diabetes, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by fulminant and phasic insulin dependence, but lacking markers of autoimmunity observed in type 1 diabetes. PAX4 is a transcription factor essential f...

journal_title：Human molecular genetics

authors： Mauvais-Jarvis F,Smith SB,Le May C,Leal SM,Gautier JF,Molokhia M,Riveline JP,Rajan AS,Kevorkian JP,Zhang S,Vexiau P,German MS,Vaisse C

更新日期：2004-12-15 00:00:00

abstract：:A long-standing question concerning X-chromosome inactivation (XCI) has been how some genes avoid the otherwise stable chromosome-wide heterochromatinization of the inactive X chromosome. As 20% or more of human X-linked genes escape from inactivation, such genes are an important contributor to sex differences in gene...

journal_title：Human molecular genetics

authors： Peeters SB,Korecki AJ,Simpson EM,Brown CJ

更新日期：2018-04-01 00:00:00

abstract：:We have identified a rare mutation (T-45C) in the low density lipoprotein (LDL)-receptor gene in a Welsh patient with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH). The mutation is in the proximal Sp1 binding site in repeat 3 of the 42 bp region of the promoter required for sterol-dependent ...

journal_title：Human molecular genetics

authors： Sun XM,Neuwirth C,Wade DP,Knight BL,Soutar AK

更新日期：1995-11-01 00:00:00

abstract：:Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), indicating that GDAP1 is essential for the viability of cells in the peripheral nervous system. GDAP1 contains domains characteristic of glutathione-S-transferases (GSTs), is located in the outer ...

journal_title：Human molecular genetics

authors： Noack R,Frede S,Albrecht P,Henke N,Pfeiffer A,Knoll K,Dehmel T,Meyer Zu Hörste G,Stettner M,Kieseier BC,Summer H,Golz S,Kochanski A,Wiedau-Pazos M,Arnold S,Lewerenz J,Methner A

更新日期：2012-01-01 00:00:00