Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways.

abstract：:Convergent extension (CE) is a fundamental morphogenetic mechanism that underlies numerous processes in vertebrate development, and its disruption can lead to human congenital disorders such as neural tube closure defects. The dynamic, oriented cell intercalation during CE is regulated by a group of core proteins iden...

journal_title：Human molecular genetics

authors： Seo HS,Habas R,Chang C,Wang J

更新日期：2017-06-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide...

journal_title：Human molecular genetics

authors： Al-Chalabi A,Andersen PM,Chioza B,Shaw C,Sham PC,Robberecht W,Matthijs G,Camu W,Marklund SL,Forsgren L,Rouleau G,Laing NG,Hurse PV,Siddique T,Leigh PN,Powell JF

更新日期：1998-12-01 00:00:00

abstract：:Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two het...

journal_title：Human molecular genetics

authors： Wu JH,Liu JH,Ko YC,Wang CT,Chung YC,Chu KC,Liu TT,Chao HM,Jiang YJ,Chen SJ,Chung MY

更新日期：2016-04-15 00:00:00

abstract：:Elucidating the molecular changes that arise during neural differentiation and fate specification is crucial for building accurate in vitro models of neurodegenerative diseases using human embryonic stem cells (hESCs). Here we review the importance of hESCs and derived progenitors in treating and modeling neurological...

journal_title：Human molecular genetics

authors： Yeo GW,Coufal N,Aigner S,Winner B,Scolnick JA,Marchetto MC,Muotri AR,Carson C,Gage FH

更新日期：2008-04-15 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：:Duchenne muscular dystrophy (DMD) is a devastating X-linked disease affecting ~1 in 5000 males. DMD patients exhibit progressive muscle degeneration and weakness, leading to loss of ambulation and premature death from cardiopulmonary failure. We previously reported that mouse Laminin-111 (msLam-111) protein could redu...

journal_title：Human molecular genetics

authors： Barraza-Flores P,Fontelonga TM,Wuebbles RD,Hermann HJ,Nunes AM,Kornegay JN,Burkin DJ

更新日期：2019-08-15 00:00:00

abstract：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

journal_title：Human molecular genetics

authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

更新日期：2010-10-15 00:00:00

abstract：:Failures in neurotrophic support and signalling play key roles in Alzheimer's disease (AD) pathogenesis. We previously demonstrated that downregulation of the neurotrophin effector Kinase D interacting substrate (Kidins220) by excitotoxicity and cerebral ischaemia contributed to neuronal death. This downregulation, tr...

journal_title：Human molecular genetics

authors： López-Menéndez C,Gamir-Morralla A,Jurado-Arjona J,Higuero AM,Campanero MR,Ferrer I,Hernández F,Ávila J,Díaz-Guerra M,Iglesias T

更新日期：2013-02-01 00:00:00

abstract：:Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) ...

journal_title：Human molecular genetics

authors： Michaud JL,Lachance M,Hamdan FF,Carmant L,Lortie A,Diadori P,Major P,Meijer IA,Lemyre E,Cossette P,Mefford HC,Rouleau GA,Rossignol E

更新日期：2014-09-15 00:00:00

abstract：:Poly(ADP-ribose) polymerase 2 (PARP-2) is a newly discovered member of the PARP family. We report the association of PARP-2 with mammalian centromeres in a cell-cycle-dependent manner, accumulating at centromeres during prometaphase and metaphase, disassociating during anaphase, and disappearing from the centromeres b...

journal_title：Human molecular genetics

authors： Saxena A,Wong LH,Kalitsis P,Earle E,Shaffer LG,Choo KH

更新日期：2002-09-15 00:00:00

abstract：:Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected s...

journal_title：Human molecular genetics

authors： Slavotinek AM,Mehrotra P,Nazarenko I,Tang PL,Lao R,Cameron D,Li B,Chu C,Chou C,Marqueling AL,Yahyavi M,Cordoro K,Frieden I,Glaser T,Prescott T,Morren MA,Devriendt K,Kwok PY,Petkovich M,Desnick RJ

更新日期：2013-02-15 00:00:00

abstract：:A main strategy for lowering plasma low-density lipoprotein (LDL) cholesterol levels is to increase the number of cell-surface LDL receptors (LDLRs). This can be achieved by increasing the synthesis or preventing the degradation of the LDLR. One mechanism by which an LDLR becomes non-functional is enzymatic cleavage w...

journal_title：Human molecular genetics

authors： Strøm TB,Bjune K,Costa LTD,Leren TP

更新日期：2019-11-15 00:00:00

abstract：:Ankylosing spondylitis (AS) remains difficult to diagnose before irreversible damage to sacroiliac joint is noticeable. Circulating microRNAs have demonstrated to serve as diagnostic tools for several human diseases. Here, we analysed plasma microRNAs to identify potential AS biomarkers. Higher expression levels of mi...

journal_title：Human molecular genetics

authors： Perez-Sanchez C,Font-Ugalde P,Ruiz-Limon P,Lopez-Pedrera C,Castro-Villegas MC,Abalos-Aguilera MC,Barbarroja N,Arias-de la Rosa I,Lopez-Montilla MD,Escudero-Contreras A,Lopez-Medina C,Collantes-Estevez E,Jimenez-Gomez Y

更新日期：2018-03-01 00:00:00

abstract：:Microsatellite instability (MSI) characterizes tumors arising in patients with hereditary non-polyposis colorectal cancer (HNPCC) syndrome. HNPCC is a hereditary autosomal dominant disease caused by germline mutations in genes from the DNA (MMR) mismatch repair system. In these tumors, the loss of MMR compromises the ...

journal_title：Human molecular genetics

authors： Alazzouzi H,Domingo E,González S,Blanco I,Armengol M,Espín E,Plaja A,Schwartz S,Capella G,Schwartz S Jr

更新日期：2005-01-15 00:00:00

abstract：:Aneuploidy is prevalent in human embryos and is the leading cause of pregnancy loss. Many aneuploidies arise during oogenesis, increasing with maternal age. Superimposed on these meiotic aneuploidies are frequent errors occurring during early mitotic divisions, contributing to widespread chromosomal mosaicism. Here we...

journal_title：Human molecular genetics

authors： McCoy RC,Newnham LJ,Ottolini CS,Hoffmann ER,Chatzimeletiou K,Cornejo OE,Zhan Q,Zaninovic N,Rosenwaks Z,Petrov DA,Demko ZP,Sigurjonsson S,Handyside AH

更新日期：2018-07-15 00:00:00

abstract：:Trinucleotide repeats at five disease loci (DM, DRPLA, HD, SBMA and SCA1) were surveyed in phenotypically normal individuals from three continental populations. This is the first analysis to examine the population dynamics of these five disease-related trinucleotide repeats in the same individuals from worldwide popul...

journal_title：Human molecular genetics

authors： Watkins WS,Bamshad M,Jorde LB

更新日期：1995-09-01 00:00:00

abstract：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct a...

journal_title：Human molecular genetics

authors： Topçu M,Jobard F,Halliez S,Coskun T,Yalçinkayal C,Gerceker FO,Wanders RJ,Prud'homme JF,Lathrop M,Ozguc M,Fischer J

更新日期：2004-11-15 00:00:00

abstract：:SPEG, a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in skeletal muscles. In humans, SPEG mutations are associated with centronuclear myopathy and cardiomyopathy. Using a striated muscle specific Speg-knockout (KO) mouse model, we have previously shown that ...

journal_title：Human molecular genetics

authors： Luo S,Li Q,Lin J,Murphy Q,Marty I,Zhang Y,Kazerounian S,Agrawal PB

更新日期：2020-12-23 00:00:00

abstract：:Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in multiple pathways, including RNA metabolism and splicing as well as motoneuron development and function. Here we provide evidence for a major contribut...

journal_title：Human molecular genetics

authors： Nölle A,Zeug A,van Bergeijk J,Tönges L,Gerhard R,Brinkmann H,Al Rayes S,Hensel N,Schill Y,Apkhazava D,Jablonka S,O'mer J,Srivastav RK,Baasner A,Lingor P,Wirth B,Ponimaskin E,Niedenthal R,Grothe C,Claus P

更新日期：2011-12-15 00:00:00

abstract：:Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...

journal_title：Human molecular genetics

authors： Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

更新日期：2014-05-01 00:00:00

abstract：:FMR1 protein expression was studied in different tissues. In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as shown in lymphoblastoid cells lines. The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 k...

journal_title：Human molecular genetics

authors： Verheij C,de Graaff E,Bakker CE,Willemsen R,Willems PJ,Meijer N,Galjaard H,Reuser AJ,Oostra BA,Hoogeveen AT

更新日期：1995-05-01 00:00:00

abstract：:MicroRNAs (miRs) are non-coding RNA molecules involved in cancer initiation and progression. Deregulated miR expression has been implicated in cancer; however, there are no studies implicating an miR signature associated with progression in oral squamous cell carcinoma (OSCC). Although OSCC may develop from oral leuko...

journal_title：Human molecular genetics

authors： Cervigne NK,Reis PP,Machado J,Sadikovic B,Bradley G,Galloni NN,Pintilie M,Jurisica I,Perez-Ordonez B,Gilbert R,Gullane P,Irish J,Kamel-Reid S

更新日期：2009-12-15 00:00:00

abstract：:Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents...

journal_title：Human molecular genetics

authors： Lostal W,Bartoli M,Bourg N,Roudaut C,Bentaïb A,Miyake K,Guerchet N,Fougerousse F,McNeil P,Richard I

更新日期：2010-05-15 00:00:00

abstract：:Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRM...

journal_title：Human molecular genetics

authors： Boczonadi V,Smith PM,Pyle A,Gomez-Duran A,Schara U,Tulinius M,Chinnery PF,Horvath R

更新日期：2013-11-15 00:00:00

abstract：:PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common to all isoforms. Due to the ubiquitous presence of plectin in mamm...

journal_title：Human molecular genetics

authors： Gostyńska KB,Nijenhuis M,Lemmink H,Pas HH,Pasmooij AM,Lang KK,Castañón MJ,Wiche G,Jonkman MF

更新日期：2015-06-01 00:00:00

abstract：:Huntington's disease shares a common molecular basis with eight other neurodegenerative diseases, expansion of an existing polyglutamine tract. In each case, this repeat tract occurs within otherwise unrelated proteins. These proteins show widespread and overlapping patterns of expression in the brain and yet the dise...

journal_title：Human molecular genetics

authors： Henshall TL,Tucker B,Lumsden AL,Nornes S,Lardelli MT,Richards RI

更新日期：2009-12-15 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, which is translated into an elongated polyglutamine (polyQ) tract in AR protein (ARpolyQ). ARpolyQ toxicity is activated by the AR ligand testosterone (or dihydrotestost...

journal_title：Human molecular genetics

authors： Giorgetti E,Rusmini P,Crippa V,Cristofani R,Boncoraglio A,Cicardi ME,Galbiati M,Poletti A

更新日期：2015-01-01 00:00:00

abstract：:The TRPS1 gene codes for a 1281 amino acids nuclear transcription factor with an unusual combination of different types of zinc finger motifs, including GATA-type DNA-binding and IKAROS-like zinc fingers. TRPS1 is a repressor of GATA-regulated genes and implicated in the human tricho-rhino-phalangeal syndromes. We fou...

journal_title：Human molecular genetics

authors： Kaiser FJ,Tavassoli K,Van den Bemd GJ,Chang GT,Horsthemke B,Möröy T,Lüdecke HJ

更新日期：2003-06-01 00:00:00

abstract：:Recent studies in mice have clearly demonstrated that eliminating Apo E alters the rate, character and distribution of A beta deposits. In the present study, we asked whether elevating the levels of Apo E can, in a dominant fashion, influence amyloid deposition. We expressed human (Hu) Apo E4 via the mouse prion prote...

journal_title：Human molecular genetics

authors： Lesuisse C,Xu G,Anderson J,Wong M,Jankowsky J,Holtz G,Gonzalez V,Wong PC,Price DL,Tang F,Wagner S,Borchelt DR

更新日期：2001-10-15 00:00:00

abstract：:We describe a detection principle for indirect fluorescence in situ hybridization (FISH) methods that with only one or two antibody layers dramatically improves FISH signal intensities. The method uses as a first layer an anti-hapten immunoglobulin [or (strept)avidin] conjugated to peroxidase. The quintessence of the ...

journal_title：Human molecular genetics

authors： Raap AK,van de Corput MP,Vervenne RA,van Gijlswijk RP,Tanke HJ,Wiegant J

更新日期：1995-04-01 00:00:00