A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.

abstract：:Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is evidence for involvement of the photoreceptor cilium, photoreceptor synapse, the adjacent retinal pigment epithelium (RPE)...

journal_title：Human molecular genetics

authors： Jacobson SG,Cideciyan AV,Aleman TS,Sumaroka A,Roman AJ,Gardner LM,Prosser HM,Mishra M,Bech-Hansen NT,Herrera W,Schwartz SB,Liu XZ,Kimberling WJ,Steel KP,Williams DS

更新日期：2008-08-01 00:00:00

abstract：:The FUS gene at 16p11 fuses with DDIT3 and ATF1 as the result of translocations with chromosome band 12q13 in myxoid liposarcoma and angiomatoid fibrous histiocytoma, respectively, and with ERG as the result of a t(16;21)(p11;q22) in acute myeloid leukemia. We here show that a t(7;16)(q33;p11) in two cases of low grad...

journal_title：Human molecular genetics

authors： Storlazzi CT,Mertens F,Nascimento A,Isaksson M,Wejde J,Brosjo O,Mandahl N,Panagopoulos I

更新日期：2003-09-15 00:00:00

abstract：:Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome which affects thyroid C cells, and with variable frequency, the adrenal medulla, parathyroid and enteric autonomic ganglia. The syndrome is due to germline mutation in the receptor tyrosine kinase gene, RET. We have recently shown an...

journal_title：Human molecular genetics

authors： Gardner E,Mulligan LM,Eng C,Healey CS,Kwok JB,Ponder MA,Ponder BA

更新日期：1994-10-01 00:00:00

abstract：:In vertebrates, a proneural basic helix-loop-helix transcription factor (Ath5, Atonal homolog 5) plays a crucial role in the specification of the first retinal neuron: the retinal ganglion cell (RGC). Math5 homozygous null mutant mice lack RGCs and have no optic nerve. Furthermore, the expression of the Ath5 protein i...

journal_title：Human molecular genetics

authors： Hsiung F,Moses K

更新日期：2002-05-15 00:00:00

abstract：:Fragile X syndrome is the most frequent cause of heritable mental retardation. Most patients have a mutation in the 5' untranslated region of the FMR1 gene, consisting of the amplification of a polymorphic (CGG)nrepeat sequence, and cytogenetically express the folate-sensitive fragile site FRAXA in Xq27.3. Fragile X p...

journal_title：Human molecular genetics

authors： Chiurazzi P,Pomponi MG,Willemsen R,Oostra BA,Neri G

更新日期：1998-01-01 00:00:00

abstract：:The mitochondrial unfolded protein response (UPRmt) is a transcriptional program aimed at restoring proteostasis in mitochondria. Upregulation of mitochondrial matrix proteases and heat shock proteins was initially described. Soon thereafter, a distinct UPRmt induced by misfolded proteins in the mitochondrial intermem...

journal_title：Human molecular genetics

authors： Riar AK,Burstein SR,Palomo GM,Arreguin A,Manfredi G,Germain D

更新日期：2017-04-01 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：:Alzheimer's disease (AD) and related tauopathies comprise a large group of neurodegenerative diseases associated with the pathological aggregation of tau protein. While much effort has focused on understanding the function of tau, little is known about the endogenous mechanisms regulating tau metabolism in vivo and ho...

journal_title：Human molecular genetics

authors： Smith PY,Hernandez-Rapp J,Jolivette F,Lecours C,Bisht K,Goupil C,Dorval V,Parsi S,Morin F,Planel E,Bennett DA,Fernandez-Gomez FJ,Sergeant N,Buée L,Tremblay MÈ,Calon F,Hébert SS

更新日期：2015-12-01 00:00:00

abstract：:Genomic imprinting is the phenomenon whereby mono-allelic expression of certain genes occurs depending on their parental origin. The observation that imprinting only occurs in placental mammals has led to the suggestion that it may play a role in this form of reproduction. In the present study we have investigated the...

journal_title：Human molecular genetics

authors： Hiby SE,Lough M,Keverne EB,Surani MA,Loke YW,King A

更新日期：2001-05-01 00:00:00

abstract：:Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci have been mapped to the chromosomal positions 14q11.2-q24.3 (SPG3), 2p21-p24 (SPG4) and 15q11.1 (SPG6). The repeat expansion detection (RED) method has been used t...

journal_title：Human molecular genetics

authors： Benson KF,Horwitz M,Wolff J,Friend K,Thompson E,White S,Richards RI,Raskind WH,Bird TD

更新日期：1998-10-01 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：:Inherited defects in the X-chromosomal adrenoleukodystrophy (ALD; ABCD1) gene are the genetic cause of the severe neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD). Biochemically the accumulation of very long-chain fatty acids, caused by impaired peroxisomal beta-oxidation, is the pathognomonic characte...

journal_title：Human molecular genetics

authors： Unterrainer G,Molzer B,Forss-Petter S,Berger J

更新日期：2000-11-01 00:00:00

abstract：:Formation of protein aggregates is the hallmark of neurodegenerative diseases such as Alzheimer's disease, Huntington's disease, and frontotemporal dementia. Many ubiquitin-associated proteins are recruited to protein aggregates, such as sequestosome 1/p62 (p62), parkin, and cereblon (CRBN). However, the roles of thes...

journal_title：Human molecular genetics

authors： Zhou L,Hao Z,Wang G,Xu G

更新日期：2018-02-15 00:00:00

abstract：:Mutations of the leucine-rich glioma-inactivated 1 (LGI1) gene cause an autosomal dominant partial epilepsy with auditory features also known as autosomal-dominant lateral temporal lobe epilepsy. LGI1 is also the main antigen present in sera and cerebrospinal fluids of patients with limbic encephalitis and seizures, h...

journal_title：Human molecular genetics

authors： Baulac S,Ishida S,Mashimo T,Boillot M,Fumoto N,Kuwamura M,Ohno Y,Takizawa A,Aoto T,Ueda M,Ikeda A,LeGuern E,Takahashi R,Serikawa T

更新日期：2012-08-15 00:00:00

abstract：:ABP-280 is a ubiquitous actin binding protein present in the cytoskeleton of many different cell types. ABP-280 was mapped to distal Xq28, 50-60 kb downstream of the Green Colour Pigment (GCP) genes. To establish if ABP-280 may be a candidate for one of the muscle disease localized by linkage analysis to distal Xq28 w...

journal_title：Human molecular genetics

authors： Maestrini E,Patrosso C,Mancini M,Rivella S,Rocchi M,Repetto M,Villa A,Frattini A,Zoppè M,Vezzoni P

更新日期：1993-06-01 00:00:00

abstract：:P-selectin is an adhesion molecule, expressed at the surface of activated cells, that mediates the interaction of activated endothelial cells or platelets with leukocytes. P-selectin expression is increased in atherosclerotic plaques, and high plasma levels of this molecule have been observed in patients with unstable...

journal_title：Human molecular genetics

authors： Herrmann SM,Ricard S,Nicaud V,Mallet C,Evans A,Ruidavets JB,Arveiler D,Luc G,Cambien F

更新日期：1998-08-01 00:00:00

abstract：:The limited life span of normal human cells represents a substantial obstacle for biochemical analysis, genetic manipulation and genetic screens. To overcome this technical barrier, immortal human cell lines are often derived from tumors or produced by transformation with viral oncogenes such as SV40 large T antigen. ...

journal_title：Human molecular genetics

authors： Ouellette MM,McDaniel LD,Wright WE,Shay JW,Schultz RA

更新日期：2000-02-12 00:00:00

abstract：:Both genetic and environmental factors contribute to the development of intellectual disability (ID). Previously, we identified a promoter variant (-113C>A) in PLP2 (proteolipid protein 2) that results in an ∼4-fold reduction of transcript and protein and is overly represented in males with X-linked ID (XLID). The fun...

journal_title：Human molecular genetics

authors： Zhang L,Wang T,Valle D

更新日期：2015-12-20 00:00:00

abstract：:Titin-truncating variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy. TTNtv occur in ~1% of the general population and causes subclinical cardiac remodeling in asymptomatic carriers. In rat models with either proximal or distal TTNtv, we previously showed altered cardiac metabolism at baseline...

journal_title：Human molecular genetics

authors： Zhou J,Ng B,Ko NSJ,Fiedler LR,Khin E,Lim A,Sahib NE,Wu Y,Chothani SP,Schafer S,Bay BH,Sinha RA,Cook SA,Yen PM

更新日期：2019-06-15 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：:In a forward genetic screen in Drosophila melanogaster, aimed to identify genes required for normal locomotor function, we isolated dPPCS (the second enzyme of the Coenzyme A biosynthesis pathway). The entire Drosophila CoA synthesis route was dissected, annotated and additional CoA mutants were obtained (dPANK/fumble...

journal_title：Human molecular genetics

authors： Bosveld F,Rana A,van der Wouden PE,Lemstra W,Ritsema M,Kampinga HH,Sibon OC

更新日期：2008-07-01 00:00:00

abstract：:Primary pigmented nodular adrenocortical disease (PPNAD) is associated with inactivating mutations of the PRKAR1A tumor suppressor gene that encodes the regulatory subunit R1α of the cAMP-dependent protein kinase (PKA). In human and mouse adrenocortical cells, these mutations lead to increased PKA activity, which resu...

journal_title：Human molecular genetics

authors： de Joussineau C,Sahut-Barnola I,Tissier F,Dumontet T,Drelon C,Batisse-Lignier M,Tauveron I,Pointud JC,Lefrançois-Martinez AM,Stratakis CA,Bertherat J,Val P,Martinez A

更新日期：2014-10-15 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：:Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where ca...

journal_title：Human molecular genetics

authors： Benet-Pagès A,Orlik P,Strom TM,Lorenz-Depiereux B

更新日期：2005-02-01 00:00:00

abstract：:Apoptosis is a morphologically distinct form of cell death involved in many physiological and pathological processes. The regulation of Fas/Apo-1 involved in membrane-mediated apoptosis has also been known to play crucial roles in many systems. More and more naturally occurring antisense RNAs are now known to regulate...

journal_title：Human molecular genetics

authors： Yan MD,Hong CC,Lai GM,Cheng AL,Lin YW,Chuang SE

更新日期：2005-06-01 00:00:00

abstract：:Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia. They join the most common cholesterol biosyn...

journal_title：Human molecular genetics

authors： Herman GE

更新日期：2003-04-01 00:00:00

abstract：:Glomerular disease is one of the most common causes of end-stage renal failure. Increasing evidence suggests that these glomerulopathies are frequently caused by primary lesions in the renal podocytes. One of the major consequences of podocyte lesions is the accumulation of mesangial matrix in the glomerular basement ...

journal_title：Human molecular genetics

authors： Guo JK,Menke AL,Gubler MC,Clarke AR,Harrison D,Hammes A,Hastie ND,Schedl A

更新日期：2002-03-15 00:00:00

abstract：:Fanconi anaemia (FA) is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, multiple congenital abnormalities, and an increased risk of cancer. FA cells are characterized by chromosomal instability and hypersensitivity to DNA interstrand crosslinking agents. At least eight complem...

journal_title：Human molecular genetics

authors： Hussain S,Witt E,Huber PA,Medhurst AL,Ashworth A,Mathew CG

更新日期：2003-10-01 00:00:00

abstract：:Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...

journal_title：Human molecular genetics

authors： Schaefer AS,Richter GM,Nothnagel M,Manke T,Dommisch H,Jacobs G,Arlt A,Rosenstiel P,Noack B,Groessner-Schreiber B,Jepsen S,Loos BG,Schreiber S

更新日期：2010-02-01 00:00:00

abstract：:Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impai...

journal_title：Human molecular genetics

authors： Deng HX,Zhai H,Fu R,Shi Y,Gorrie GH,Yang Y,Liu E,Dal Canto MC,Mugnaini E,Siddique T

更新日期：2007-12-01 00:00:00