Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway.

abstract：:Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy caused by a polyalanine expansion mutation in the coding region of the poly-(A) binding protein nuclear 1 (PABPN1) gene. In unaffected individuals, (GCG)(6) encodes the first 6 alanines in a homopolymeric stretch of 10 alanines. In most patie...

journal_title：Human molecular genetics

authors： Davies JE,Rubinsztein DC

更新日期：2011-03-15 00:00:00

abstract：:Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder. To understand how disruption of gigaxonin's function leads to neurodegeneration, we ablated the gene expression in mice using traditional gene targeting approach. Progressive neurological phenotypes and pathologic...

journal_title：Human molecular genetics

authors： Ding J,Allen E,Wang W,Valle A,Wu C,Nardine T,Cui B,Yi J,Taylor A,Jeon NL,Chu S,So Y,Vogel H,Tolwani R,Mobley W,Yang Y

更新日期：2006-05-01 00:00:00

abstract：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

journal_title：Human molecular genetics

authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

更新日期：2006-02-15 00:00:00

abstract：:The fragile X syndrome is characterized at the molecular level by expansion and methylation of a CGG trinucleotide repeat located within the FMR1 locus. The tissues of most full mutation carriers are mosaic for repeat size, but these mutational patterns tend to be well conserved when comparing multiple tissues within ...

journal_title：Human molecular genetics

authors： Burman RW,Popovich BW,Jacky PB,Turker MS

更新日期：1999-11-01 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：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

journal_title：Human molecular genetics

authors： Liu W,Jiang F,Bi X,Zhang YQ

更新日期：2012-11-01 00:00:00

abstract：:Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine. Recently, we described a point mutation in hTH (Q381K) in a family of two siblings suffering from progressive L-DOPA-responsive dystonia (DRD), representing the...

journal_title：Human molecular genetics

authors： Knappskog PM,Flatmark T,Mallet J,Lüdecke B,Bartholomé K

更新日期：1995-07-01 00:00:00

abstract：:To elucidate the molecular mechanisms of impaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing missense substitutions in fibulin-5, C217R and S227P. Pulse-chase immunoprecipitation experiments indicated that S227P mutant fibulin-5 was synthesized and secreted by skin fibrob...

journal_title：Human molecular genetics

authors： Hu Q,Loeys BL,Coucke PJ,De Paepe A,Mecham RP,Choi J,Davis EC,Urban Z

更新日期：2006-12-01 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：:The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS). T...

journal_title：Human molecular genetics

authors： Cerrato F,Sparago A,Verde G,De Crescenzo A,Citro V,Cubellis MV,Rinaldi MM,Boccuto L,Neri G,Magnani C,D'Angelo P,Collini P,Perotti D,Sebastio G,Maher ER,Riccio A

更新日期：2008-05-15 00:00:00

abstract：:We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...

journal_title：Human molecular genetics

authors： Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

更新日期：2002-06-01 00:00:00

abstract：:Pathogenic leucine-rich repeat kinase 2 (LRRK2) mutations are recognized as the most common cause of familial Parkinson's disease in certain populations. Recently, LRRK2 mutations were shown to be associated with a higher risk of hormone-related cancers. However, how LRRK2 itself contributes to cancer risk remains unk...

journal_title：Human molecular genetics

authors： Chen Z,Cao Z,Zhang W,Gu M,Zhou ZD,Li B,Li J,Tan EK,Zeng L

更新日期：2017-11-15 00:00:00

abstract：:Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms. To investigate the prevalence of LKB1 germline mutations in PJS more generally, we studied samples from 33 unrelated PJS patients including eig...

journal_title：Human molecular genetics

authors： Ylikorkala A,Avizienyte E,Tomlinson IP,Tiainen M,Roth S,Loukola A,Hemminki A,Johansson M,Sistonen P,Markie D,Neale K,Phillips R,Zauber P,Twama T,Sampson J,Järvinen H,Mäkelä TP,Aaltonen LA

更新日期：1999-01-01 00:00:00

abstract：:Gene transfer studies for the treatment of hemophilia began more than two decades ago. A large body of pre-clinical work evaluated a variety of vectors and target tissues, but by the start of the new millennium it became evident that adeno-associated viral (AAV)-mediated gene transfer to the liver held great promise a...

journal_title：Human molecular genetics

authors： High KA,Anguela XM

更新日期：2016-04-15 00:00:00

abstract：:Huntingtin interacting protein 14 (HIP14, ZDHHC17) is a huntingtin (HTT) interacting protein with palmitoyl transferase activity. In order to interrogate the function of Hip14, we generated mice with disruption in their Hip14 gene. Hip14-/- mice displayed behavioral, biochemical and neuropathological defects that are ...

journal_title：Human molecular genetics

authors： Singaraja RR,Huang K,Sanders SS,Milnerwood AJ,Hines R,Lerch JP,Franciosi S,Drisdel RC,Vaid K,Young FB,Doty C,Wan J,Bissada N,Henkelman RM,Green WN,Davis NG,Raymond LA,Hayden MR

更新日期：2011-10-15 00:00:00

abstract：:Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Different hypotheses exist about the...

journal_title：Human molecular genetics

authors： Swaminathan A,Bouffard M,Liao M,Ryan S,Callister JB,Pickering-Brown SM,Armstrong GAB,Drapeau P

更新日期：2018-05-15 00:00:00

abstract：:Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction. Although the disease occurs predominantly in the Finnish population, many cases in other populations have also been reported. The disease gene (NPHS1) encode...

journal_title：Human molecular genetics

authors： Liu L,Doné SC,Khoshnoodi J,Bertorello A,Wartiovaara J,Berggren PO,Tryggvason K

更新日期：2001-11-01 00:00:00

abstract：:Mutations in the gene encoding the inner nuclear membrane proteins lamins A and C produce cardiac and skeletal muscle dysfunction referred to as Emery Dreifuss muscular dystrophy. Lamins A and C participate in the LINC complex that, along with the nesprin and SUN proteins, LInk the Nucleoskeleton with the Cytoskeleton...

journal_title：Human molecular genetics

authors： Puckelwartz MJ,Kessler E,Zhang Y,Hodzic D,Randles KN,Morris G,Earley JU,Hadhazy M,Holaska JM,Mewborn SK,Pytel P,McNally EM

更新日期：2009-02-15 00:00:00

abstract：:Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, f...

journal_title：Human molecular genetics

authors： Hammarsund M,Lerner M,Zhu C,Merup M,Jansson M,Gahrton G,Kluin-Nelemans H,Einhorn S,Grandér D,Sangfelt O,Corcoran M

更新日期：2004-12-01 00:00:00

abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

journal_title：Human molecular genetics

authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

更新日期：2009-10-01 00:00:00

abstract：:Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alternative transcriptio...

journal_title：Human molecular genetics

authors： Brooks SP,Coccia M,Tang HR,Kanuga N,Machesky LM,Bailly M,Cheetham ME,Hardcastle AJ

更新日期：2010-06-15 00:00:00

abstract：:Nicotine is thought to act on brain monoamine systems that normally mediate diverse motivational behaviors. How monoamine-related genes contribute to behavioral traits (e.g. responses to novel stimuli) comorbid with the susceptibility to nicotine addiction is still poorly understood. We examined the impact of constitu...

journal_title：Human molecular genetics

authors： Agatsuma S,Lee M,Zhu H,Chen K,Shih JC,Seif I,Hiroi N

更新日期：2006-09-15 00:00:00

abstract：:In humans, the concerted action of at least 13 different peroxisomal PEX proteins is needed for proper peroxisome biogenesis. Mutations in any of these PEX genes can lead to lethal neurometabolic disorders of the Zellweger syndrome spectrum (ZSS). Previously, we identified the W313G mutation located within the SH3 dom...

journal_title：Human molecular genetics

authors： Krause C,Rosewich H,Woehler A,Gärtner J

更新日期：2013-10-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in ...

journal_title：Human molecular genetics

authors： Bischof JM,Stewart CL,Wevrick R

更新日期：2007-11-15 00:00:00

abstract：:Deficiencies in the complex I (CI; NADH-ubiquinone oxidoreductase) of the respiratory chain are frequent causes of mitochondrial diseases and have been associated with other neurodegenerative disorders, such as Parkinson's disease. The NADH-ubiquinone oxidoreductase 1 alpha subcomplex subunit 5 (NDUFA5) is a nuclear-e...

journal_title：Human molecular genetics

authors： Peralta S,Torraco A,Wenz T,Garcia S,Diaz F,Moraes CT

更新日期：2014-03-15 00:00:00

abstract：:Apolipoprotein-E (apoE) protects against coronary artery disease via hepatic removal of atherogenic remnant lipoproteins, sequestration of cholesterol from vessel walls and local anti-oxidant, anti-platelet and anti-inflammatory actions. ApoE gene transfer may thus ameliorate a hyperlipidaemic profile and have benefic...

journal_title：Human molecular genetics

authors： Athanasopoulos T,Owen JS,Hassall D,Dunckley MG,Drew J,Goodman J,Tagalakis AD,Riddell DR,Dickson G

更新日期：2000-10-12 00:00:00

abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

journal_title：Human molecular genetics

authors： Berwick DC,Harvey K

更新日期：2012-11-15 00:00:00

abstract：:Mutations in subunits or regulators of cohesin cause a spectrum of disorders in humans known as the 'cohesinopathies'. Cohesinopathies, including the best known example Cornelia de Lange syndrome (CdLS), are characterized by broad spectrum, multifactorial developmental anomalies. Heart defects occur at high frequency ...

journal_title：Human molecular genetics

authors： Schuster K,Leeke B,Meier M,Wang Y,Newman T,Burgess S,Horsfield JA

更新日期：2015-12-15 00:00:00

abstract：:Integrating single-cell RNA sequencing (scRNA-seq) data with genotypes obtained from DNA sequencing studies facilitates the detection of functional genetic variants underlying cell type-specific gene expression variation. Unfortunately, most existing scRNA-seq studies do not come with DNA sequencing data; thus, being ...

journal_title：Human molecular genetics

authors： Schnepp PM,Chen M,Keller ET,Zhou X

更新日期：2019-11-01 00:00:00

abstract：:Ciliopathies form a group of inherited disorders sharing several clinical manifestations because of abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important ...

journal_title：Human molecular genetics

authors： Li J,Lu D,Liu H,Williams BO,Overbeek PA,Lee B,Zheng L,Yang T

更新日期：2017-08-01 00:00:00