SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.

abstract：:Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with the C-terminal exons of the closely linked My...

journal_title：Human molecular genetics

authors： Jones JM,Huang JD,Mermall V,Hamilton BA,Mooseker MS,Escayg A,Copeland NG,Jenkins NA,Meisler MH

更新日期：2000-03-22 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：:Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethylation, identifying these changes is important in understanding v...

journal_title：Human molecular genetics

authors： Connelly JJ,Cherepanova OA,Doss JF,Karaoli T,Lillard TS,Markunas CA,Nelson S,Wang T,Ellis PD,Langford CF,Haynes C,Seo DM,Goldschmidt-Clermont PJ,Shah SH,Kraus WE,Hauser ER,Gregory SG

更新日期：2013-12-20 00:00:00

abstract：:Loss-of-function mutations in RET cause abnormal development of the enteric nervous system, a congenital condition known as Hirschsprung disease. Hirschsprung mutations in the extracellular domain of RET (RETECD) affect processing in the endoplasmic reticulum (ER) and prevent RET expression at the cell surface. We hav...

journal_title：Human molecular genetics

authors： Kjaer S,Ibáñez CF

更新日期：2003-09-01 00:00:00

abstract：:Mutations in RP2 cause the second most frequent form of X-linked retinitis pigmentosa, a severe retinal degeneration that leads to loss of visual acuity and blindness. The RP2 gene encodes a protein with homology to cofactor C, a tubulin-folding chaperone. By searching protein sequence databases, we identified a whole...

journal_title：Human molecular genetics

authors： Schwahn U,Paland N,Techritz S,Lenzner S,Berger W

更新日期：2001-05-15 00:00:00

abstract：:Fragile X Syndrome is the most common form of hereditary mental retardation. It is caused by a large expansion of the CGG trinucleotide repeat (>200 repeats) in the 5'-untranslated region (UTR) of the FMR1 gene that leads to silencing of its transcript. Individuals with CGG repeat expansions approximately between 60 a...

journal_title：Human molecular genetics

authors： Sofola OA,Jin P,Botas J,Nelson DL

更新日期：2007-10-01 00:00:00

abstract：:The purpose of this study was to investigate the link between mutant huntingtin (Htt) and neuronal damage in relation to mitochondria in Huntington's disease (HD). In an earlier study, we determined the relationship between mutant Htt and mitochondrial dynamics/synaptic viability in HD patients. We found mitochondrial...

journal_title：Human molecular genetics

authors： Shirendeb UP,Calkins MJ,Manczak M,Anekonda V,Dufour B,McBride JL,Mao P,Reddy PH

更新日期：2012-01-15 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy in spinal cords, (ii) cerebral AMN with brain demyelination (cAMN) an...

journal_title：Human molecular genetics

authors： Schlüter A,Espinosa L,Fourcade S,Galino J,López E,Ilieva E,Morató L,Asheuer M,Cook T,McLaren A,Reid J,Kelly F,Bates S,Aubourg P,Galea E,Pujol A

更新日期：2012-03-01 00:00:00

abstract：:The rapid increase in the prevalence of type 2 diabetes (T2D) represents a major challenge for health care delivery worldwide. Identification of genes influencing individual susceptibility to disease offers a route to better understanding of the molecular mechanisms underlying pathogenesis, a necessary prerequisite fo...

journal_title：Human molecular genetics

authors： McCarthy MI

更新日期：2004-04-01 00:00:00

abstract：:Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction...

journal_title：Human molecular genetics

authors： Mansouri K,Mostafie A,Rezazadeh D,Shahlaei M,Modarressi MH

更新日期：2016-01-15 00:00:00

abstract：:The MITF/TFE subfamily of basic helix-loop-helix leucine-zipper (bHLH-LZ) transcription factors consists of four closely related members, TFE3, TFEB, TFEC and MITF, which can form both homo- and heterodimers. Previously, we demonstrated that in t(X;1)(p11;q21)-positive renal cell carcinomas (RCCs), the TFE3 gene on th...

journal_title：Human molecular genetics

authors： Kuiper RP,Schepens M,Thijssen J,van Asseldonk M,van den Berg E,Bridge J,Schuuring E,Schoenmakers EF,van Kessel AG

更新日期：2003-07-15 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：:Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD ...

journal_title：Human molecular genetics

authors： Alankarage D,Szot JO,Pachter N,Slavotinek A,Selleri L,Shieh JT,Winlaw D,Giannoulatou E,Chapman G,Dunwoodie SL

更新日期：2020-05-08 00:00:00

abstract：:A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth disease type 1A (CMT1A). An independent origin for the mutation in each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatid exch...

journal_title：Human molecular genetics

authors： Palau F,Löfgren A,De Jonghe P,Bort S,Nelis E,Sevilla T,Martin JJ,Vilchez J,Prieto F,Van Broeckhoven C

更新日期：1993-12-01 00:00:00

abstract：:Dysfunction of mitochondrial translation is an increasingly important molecular cause of human disease, but structural defects of mitochondrial ribosomal subunits are rare. We used next-generation sequencing to identify a homozygous variant in the mitochondrial small ribosomal protein 14 (MRPS14, uS14m) in a patient m...

journal_title：Human molecular genetics

authors： Jackson CB,Huemer M,Bolognini R,Martin F,Szinnai G,Donner BC,Richter U,Battersby BJ,Nuoffer JM,Suomalainen A,Schaller A

更新日期：2019-02-15 00:00:00

abstract：:Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional...

journal_title：Human molecular genetics

authors： Fogel BL,Cho E,Wahnich A,Gao F,Becherel OJ,Wang X,Fike F,Chen L,Criscuolo C,De Michele G,Filla A,Collins A,Hahn AF,Gatti RA,Konopka G,Perlman S,Lavin MF,Geschwind DH,Coppola G

更新日期：2014-09-15 00:00:00

abstract：:Myelin sheath thickness is precisely regulated and essential for rapid propagation of action potentials along myelinated axons. In the peripheral nervous system, extrinsic signals from the axonal protein neuregulin 1 (NRG1) type III regulate Schwann cell fate and myelination. Here we ask if modulating NRG1 type III le...

journal_title：Human molecular genetics

authors： Belin S,Ornaghi F,Shackleford G,Wang J,Scapin C,Lopez-Anido C,Silvestri N,Robertson N,Williamson C,Ishii A,Taveggia C,Svaren J,Bansal R,Schwab MH,Nave K,Fratta P,D'Antonio M,Poitelon Y,Feltri ML,Wrabetz L

更新日期：2019-04-15 00:00:00

abstract：:We examined the imprinting status of the insulin-like growth factor II gene (IGF2) in a series of 20 human breast disease samples to determine if disrupted imprinting (as evidenced by biallelic expression), was a demonstrable mechanism of altered gene expression. These samples included benign (n = 7) and malignant bre...

journal_title：Human molecular genetics

authors： McCann AH,Miller N,O'Meara A,Pedersen I,Keogh K,Gorey T,Dervan PA

更新日期：1996-08-01 00:00:00

abstract：:Fragile X Syndrome (FXS) is a learning disability seen in individuals who have >200 CGG•CCG repeats in the 5' untranslated region of the X-linked FMR1 gene. Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress...

journal_title：Human molecular genetics

authors： Yudkin D,Hayward BE,Aladjem MI,Kumari D,Usdin K

更新日期：2014-06-01 00:00:00

abstract：:Splicing regulation is an important step of post-transcriptional gene regulation. It is a highly dynamic process orchestrated by RNA-binding proteins (RBPs). RBP dysfunction and global splicing dysregulation have been implicated in many human diseases, but the in vivo functions of most RBPs and the splicing outcome up...

journal_title：Human molecular genetics

authors： Tan Q,Yalamanchili HK,Park J,De Maio A,Lu HC,Wan YW,White JJ,Bondar VV,Sayegh LS,Liu X,Gao Y,Sillitoe RV,Orr HT,Liu Z,Zoghbi HY

更新日期：2016-12-01 00:00:00

abstract：:We describe a method for rapid identification of chromosomes at metaphase, and quantification of chromosomes in interphase, by annealing oligonucleotide primers, derived from chromosome-specific subsets of repeated DNA families, to the DNA of cytological preparations, and enzymatic extension with the incorporation of ...

journal_title：Human molecular genetics

authors： Gosden J,Lawson D

更新日期：1994-06-01 00:00:00

abstract：:The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells (hNCC) develop toward the end of the first month of pregnancy. It is assumed that most differentiate after migrating thr...

journal_title：Human molecular genetics

authors： Thomas S,Thomas M,Wincker P,Babarit C,Xu P,Speer MC,Munnich A,Lyonnet S,Vekemans M,Etchevers HC

更新日期：2008-11-01 00:00:00

abstract：:Synapsin I (SynI) is a synaptic vesicle (SV) phosphoprotein playing multiple roles in synaptic transmission and plasticity by differentially affecting crucial steps of SV trafficking in excitatory and inhibitory synapses. SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene...

journal_title：Human molecular genetics

authors： Lignani G,Raimondi A,Ferrea E,Rocchi A,Paonessa F,Cesca F,Orlando M,Tkatch T,Valtorta F,Cossette P,Baldelli P,Benfenati F

更新日期：2013-06-01 00:00:00

abstract：:Mitochondrial dysfunction is implicated in aging and degenerative disorders such as Parkinson's disease (PD). Continuous fission and fusion of mitochondria shapes their morphology and is essential to maintain oxidative phosphorylation. Loss-of-function mutations in PTEN-induced kinase1 (PINK1) or Parkin cause a recess...

journal_title：Human molecular genetics

authors： Lee S,Sterky FH,Mourier A,Terzioglu M,Cullheim S,Olson L,Larsson NG

更新日期：2012-11-15 00:00:00

abstract：:Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Norwegian families where ...

journal_title：Human molecular genetics

authors： Gedde-Dahl T Jr,Dupuy BM,Jonassen R,Winberg JO,Anton-Lamprecht I,Olaisen B

更新日期：1994-08-01 00:00:00

abstract：:Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the epidermal growth factor homology domain repeat A of the low-density lipoprotein receptor (LDLR) at the cell surface and disrupts recycling of the internalized LDLR. As a consequence, the LDLR is rerouted to the lysosomes for degradation. Although PCSK9...

journal_title：Human molecular genetics

authors： Tveten K,Holla ØL,Cameron J,Strøm TB,Berge KE,Laerdahl JK,Leren TP

更新日期：2012-03-15 00:00:00

abstract：:We previously showed that disruptive complex I mutations in mitochondrial DNA are the main genetic hallmark of oncocytic tumors of the thyroid and kidney. We here report a high frequency of homoplasmic disruptive mutations in a large panel of oncocytic pituitary and head-and-neck tumors. The presence of such mutations...

journal_title：Human molecular genetics

authors： Porcelli AM,Ghelli A,Ceccarelli C,Lang M,Cenacchi G,Capristo M,Pennisi LF,Morra I,Ciccarelli E,Melcarne A,Bartoletti-Stella A,Salfi N,Tallini G,Martinuzzi A,Carelli V,Attimonelli M,Rugolo M,Romeo G,Gasparre G

更新日期：2010-03-15 00:00:00

abstract：:Prion diseases encompass a diverse group of neurodegenerative conditions characterized by the accumulation of misfolded prion protein (PrP) isoforms. Other conformational variants of PrP have also been proposed to contribute to neurotoxicity in prion diseases, including misfolded intermediates as well as cytosolic and...

journal_title：Human molecular genetics

authors： Sanchez-Garcia J,Arbelaez D,Jensen K,Rincon-Limas DE,Fernandez-Funez P

更新日期：2013-11-01 00:00:00

abstract：:PLEKHA7, a gene recently associated with primary angle closure glaucoma (PACG), encodes an apical junctional protein expressed in components of the blood aqueous barrier (BAB). We found that PLEKHA7 is down-regulated in lens epithelial cells and in iris tissue of PACG patients. PLEKHA7 expression also correlated with ...

journal_title：Human molecular genetics

authors： Lee MC,Shei W,Chan AS,Chua BT,Goh SR,Chong YF,Hilmy MH,Nongpiur ME,Baskaran M,Khor CC,Aung T,Hunziker W,Vithana EN

更新日期：2017-10-15 00:00:00

abstract：:The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare ne...

journal_title：Human molecular genetics

authors： Hemberger M,Himmelbauer H,Neumann HP,Plate KH,Schwarzkopf G,Fundele R

更新日期：1999-02-01 00:00:00