Mitochondrial DNA polymerase-gamma and human disease.

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：:The human gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3 and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS) [Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996) Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a zinc-finger protein ...

journal_title：Human molecular genetics

authors： Grimm C,Spörle R,Schmid TE,Adler ID,Adamski J,Schughart K,Graw J

更新日期：1999-04-01 00:00:00

abstract：:The gene encoding protein kinase WNK2 was recently identified to be silenced by promoter hypermethylation in gliomas and meningiomas, suggesting a tumour-suppressor role in these brain tumours. Following experimental depletion in cell lines, WNK2 was further found to control GTP-loading of Rac1, a signalling guanosine...

journal_title：Human molecular genetics

authors： Moniz S,Martinho O,Pinto F,Sousa B,Loureiro C,Oliveira MJ,Moita LF,Honavar M,Pinheiro C,Pires M,Lopes JM,Jones C,Costello JF,Paredes J,Reis RM,Jordan P

更新日期：2013-01-01 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：:Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European popula...

journal_title：Human molecular genetics

authors： Rujescu D,Ingason A,Cichon S,Pietiläinen OP,Barnes MR,Toulopoulou T,Picchioni M,Vassos E,Ettinger U,Bramon E,Murray R,Ruggeri M,Tosato S,Bonetto C,Steinberg S,Sigurdsson E,Sigmundsson T,Petursson H,Gylfason A,Olason

更新日期：2009-03-01 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：: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：:Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using ...

journal_title：Human molecular genetics

authors： Kim MJ,Oksenberg N,Hoffmann TJ,Vaisse C,Ahituv N

更新日期：2014-04-01 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：:XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of ...

journal_title：Human molecular genetics

authors： Schiebel K,Winkelmann M,Mertz A,Xu X,Page DC,Weil D,Petit C,Rappold GA

更新日期：1997-10-01 00:00:00

abstract：:Oxidative stress is a prominent feature of Huntington disease (HD), and we have shown previously that reduced levels of hace1 (HECT domain and Ankyrin repeat containing E3 ubiquitin protein ligase 1) in patient striatum may contribute to the pathogenesis of HD. Hace1 promotes the stability of Nrf2 and thus plays an im...

journal_title：Human molecular genetics

authors： Ehrnhoefer DE,Southwell AL,Sivasubramanian M,Qiu X,Villanueva EB,Xie Y,Waltl S,Anderson L,Fazeli A,Casal L,Felczak B,Tsang M,Hayden MR

更新日期：2018-01-15 00:00:00

abstract：:The AFF (AF4/FMR2) family of genes includes four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineag...

journal_title：Human molecular genetics

authors： Melko M,Douguet D,Bensaid M,Zongaro S,Verheggen C,Gecz J,Bardoni B

更新日期：2011-05-15 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：:X-linked dilated cardiomyopathy (XLDCM) is a clinical phenotype of dystrophinopathy which is characterized by preferential myocardial involvement without any overt clinical signs of skeletal myopathy. To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM,...

journal_title：Human molecular genetics

authors： Yoshida K,Nakamura A,Yazaki M,Ikeda S,Takeda S

更新日期：1998-07-01 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：:Alzheimer's disease (AD) and Parkinson's disease (PD), the two most common neurodegenerative disorders in the elderly, have been hypothesized to share genetic determinants. Recently, Li et al. proposed that a variant in the NEDD9 gene may be one of these common genetic factors. We attempted to confirm this initial obs...

journal_title：Human molecular genetics

authors： Chapuis J,Moisan F,Mellick G,Elbaz A,Silburn P,Pasquier F,Hannequin D,Lendon C,Campion D,Amouyel P,Lambert JC

更新日期：2008-09-15 00:00:00

abstract：:Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. We report here on consortin, a novel integral membrane protein that is predicted to be i...

journal_title：Human molecular genetics

authors： del Castillo FJ,Cohen-Salmon M,Charollais A,Caille D,Lampe PD,Chavrier P,Meda P,Petit C

更新日期：2010-01-15 00:00:00

abstract：:Megf7/Lrp4 is a member of the functionally diverse low-density lipoprotein receptor gene family, a class of ancient and highly conserved cell surface receptors with broad functions in cargo transport and cellular signaling. To gain insight into the as yet unknown biological role of Megf7/Lrp4, we have disrupted the ge...

journal_title：Human molecular genetics

authors： Johnson EB,Hammer RE,Herz J

更新日期：2005-11-15 00:00:00

abstract：:Superovulation or ovarian stimulation is currently an indispensable assisted reproductive technology (ART) for human subfertility/infertility treatment. Recently, increased frequencies of imprinting disorders have been correlated with ARTs. Significantly, for Angelman and Beckwith-Wiedemann Syndromes, patients have be...

journal_title：Human molecular genetics

authors： Market-Velker BA,Zhang L,Magri LS,Bonvissuto AC,Mann MR

更新日期：2010-01-01 00:00:00

abstract：:Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing ...

journal_title：Human molecular genetics

authors： Overhauser J,Huang X,Gersh M,Wilson W,McMahon J,Bengtsson U,Rojas K,Meyer M,Wasmuth JJ

更新日期：1994-02-01 00:00:00

abstract：:A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to a dominant disease with progressive external ophthalmoplegia and other symptoms. The biochemical effect of the Y955C mutation has been extensiv...

journal_title：Human molecular genetics

authors： Atanassova N,Fusté JM,Wanrooij S,Macao B,Goffart S,Bäckström S,Farge G,Khvorostov I,Larsson NG,Spelbrink JN,Falkenberg M

更新日期：2011-03-15 00:00:00

abstract：:Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. ...

journal_title：Human molecular genetics

authors： Broucqsault N,Morere J,Gaillard MC,Dumonceaux J,Torrents J,Salort-Campana E,Maues De Paula A,Bartoli M,Fernandez C,Chesnais AL,Ferreboeuf M,Sarda L,Dufour H,Desnuelle C,Attarian S,Levy N,Nguyen K,Magdinier F,Roche S

更新日期：2013-10-15 00:00:00

abstract：:Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. CLN3 has no known homology to other proteins and a function has not yet been described. The predominant mutation in CLN3 is a 1.02 kb genomic deletion that accounts for...

journal_title：Human molecular genetics

authors： Haskell RE,Carr CJ,Pearce DA,Bennett MJ,Davidson BL

更新日期：2000-03-22 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：:The autosomal-recessive mutation hydrocephalus3 (hy3) results in lethal communicating hydrocephalus with perinatal onset. We recently described a hydrocephalus-inducing transgenic insertional mutation, OVE459, which represents a new allele of hy3. Direct cDNA selection performed on a wild-type mouse BAC clone spanning...

journal_title：Human molecular genetics

authors： Davy BE,Robinson ML

更新日期：2003-05-15 00:00:00

abstract：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results f...

journal_title：Human molecular genetics

authors： Shelbourne PF,Keller-McGandy C,Bi WL,Yoon SR,Dubeau L,Veitch NJ,Vonsattel JP,Wexler NS,US-Venezuela Collaborative Research Group.,Arnheim N,Augood SJ

更新日期：2007-05-15 00:00:00

abstract：:Spastic paraplegia 35 (SPG35) (OMIM: 612319) or fatty acid hydroxylase-associated neurodegeneration (FAHN) is caused by deficiency of fatty acid 2-hydroxylase (FA2H). This enzyme synthesizes sphingolipids containing 2-hydroxylated fatty acids, which are particularly abundant in myelin. Fa2h-deficient (Fa2h-/-) mice de...

journal_title：Human molecular genetics

authors： Hardt R,Jordans S,Winter D,Gieselmann V,Wang-Eckhardt L,Eckhardt M

更新日期：2021-01-21 00:00:00

abstract：:The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a bloc...

journal_title：Human molecular genetics

authors： Warner LE,Svaren J,Milbrandt J,Lupski JR

更新日期：1999-07-01 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：:The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These are commonly r...

journal_title：Human molecular genetics

authors： Breuss MW,Nguyen T,Srivatsan A,Leca I,Tian G,Fritz T,Hansen AH,Musaev D,McEvoy-Venneri J,James KN,Rosti RO,Scott E,Tan U,Kolodner RD,Cowan NJ,Keays DA,Gleeson JG

更新日期：2017-01-15 00:00:00