Functional evaluation of genetic variation in complex human traits.

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：:The huntingtin interacting protein (HIP1) is enriched in membrane-containing cell fractions and has been implicated in vesicle trafficking. It is a multidomain protein containing an N-terminal ENTH domain, a central coiled-coil forming region and a C-terminal actin-binding domain. In the present study we have identifi...

journal_title：Human molecular genetics

authors： Waelter S,Scherzinger E,Hasenbank R,Nordhoff E,Lurz R,Goehler H,Gauss C,Sathasivam K,Bates GP,Lehrach H,Wanker EE

更新日期：2001-08-15 00:00:00

abstract：:Williams syndrome (WS) is a neurodevelopmental disorder caused by a 1.5-1.8 Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes. Phenotypes of WS include cardiovascular problems, craniofacial dysmorphology, deficits in visual-spatial cognition and a characteristic hypersocial personality. Ther...

journal_title：Human molecular genetics

authors： Kopp N,McCullough K,Maloney SE,Dougherty JD

更新日期：2019-10-15 00:00:00

abstract：:The deposition of amyloid-beta (Aβ) aggregates in the brain is a major pathological hallmark of Alzheimer's disease (AD). Aβ is generated from the cleavage of C-terminal fragments of the amyloid precursor protein (APP-CTFs) by γ-secretase, an intramembrane-cleaving protease with multiple substrates, including the Notc...

journal_title：Human molecular genetics

authors： Mosser S,Alattia JR,Dimitrov M,Matz A,Pascual J,Schneider BL,Fraering PC

更新日期：2015-01-15 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：:Huntington disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic polyglutamine stretch within huntingtin, the protein it encodes. Understanding the normal function of this essential protein is vital to u...

journal_title：Human molecular genetics

authors： Strehlow AN,Li JZ,Myers RM

更新日期：2007-02-15 00:00:00

abstract：:An association between the 19q13.2 chromosomal region and Alzheimer's disease (AD) has been reported in AD families and for sporadic AD. Recent observations provide evidence that the epsilon 4 allele of the apolipoprotein E gene (APOE), located in this region, is a risk factor for late-onset AD. Within this region, ot...

journal_title：Human molecular genetics

authors： Chartier-Harlin MC,Parfitt M,Legrain S,Pérez-Tur J,Brousseau T,Evans A,Berr C,Vidal O,Roques P,Gourlet V

更新日期：1994-04-01 00:00:00

abstract：:ATRX is a chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. It also influences the expression level of specific genes; however, deposition of H3.3 at transcribed genes is currently thought to occur independently of ATRX. We focused on a se...

journal_title：Human molecular genetics

authors： Levy MA,Kernohan KD,Jiang Y,Bérubé NG

更新日期：2015-04-01 00:00:00

abstract：:Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval conta...

journal_title：Human molecular genetics

authors： Raymond CS,Parker ED,Kettlewell JR,Brown LG,Page DC,Kusz K,Jaruzelska J,Reinberg Y,Flejter WL,Bardwell VJ,Hirsch B,Zarkower D

更新日期：1999-06-01 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：: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：:Bone mineral density (BMD) is one of the major determinants of risk for osteoporotic fracture. Multiple studies reveal that peak bone mass is under strong genetic influence. One of the major susceptibility loci for peak spine BMD has been mapped to chromosome 1q21-q23 in the Caucasian population. We have previously re...

journal_title：Human molecular genetics

authors： Cheung CL,Chan BY,Chan V,Ikegawa S,Kou I,Ngai H,Smith D,Luk KD,Huang QY,Mori S,Sham PC,Kung AW

更新日期：2009-02-15 00:00:00

abstract：:The biogenesis of the mitochondrial inner membrane is dependent on two distinct 70 kDa protein complexes. TIMM8a partners with TIMM13 in the mitochondrial intermembrane space to form a 70 kDa complex and facilitates the import of the inner membrane substrate TIMM23. We have identified a new class of substrates, citrin...

journal_title：Human molecular genetics

authors： Roesch K,Hynds PJ,Varga R,Tranebjaerg L,Koehler CM

更新日期：2004-09-15 00:00:00

abstract：:Autism spectrum disorder (ASD) is characterized by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neurolig...

journal_title：Human molecular genetics

authors： Rawsthorne H,Calahorro F,Feist E,Holden-Dye L,O'Connor V,Dillon J

更新日期：2021-01-06 00:00:00

abstract：:Recent findings from genetic epidemiology and from genome-wide association studies point strongly to a partial overlap in the genes that contribute susceptibility to schizophrenia and bipolar disorder (BD). Previous data have also directly implicated one of the best supported schizophrenia-associated loci, zinc finger...

journal_title：Human molecular genetics

authors： Williams HJ,Craddock N,Russo G,Hamshere ML,Moskvina V,Dwyer S,Smith RL,Green E,Grozeva D,Holmans P,Owen MJ,O'Donovan MC

更新日期：2011-01-15 00:00:00

abstract：:A single-base substitution in the coding region of the androgen receptor (AR) gene caused complete androgen insensitivity in a patient with 46,XY karyotype. The mutation was a T-to-G transition in exon 6 and changed the codon 807 from ATG (methionine) to AGG (arginine) in the hormone-binding domain of the protein. The...

journal_title：Human molecular genetics

authors： Adeyemo O,Kallio PJ,Palvimo JJ,Kontula K,Jänne OA

更新日期：1993-11-01 00:00:00

abstract：:The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the ide...

journal_title：Human molecular genetics

authors： Urao N,Mirza RE,Corbiere TF,Hollander Z,Borchers CH,Koh TJ

更新日期：2017-12-15 00:00:00

abstract：:Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc....

journal_title：Human molecular genetics

authors： Martin JE,Broen JC,Carmona FD,Teruel M,Simeon CP,Vonk MC,van 't Slot R,Rodriguez-Rodriguez L,Vicente E,Fonollosa V,Ortego-Centeno N,González-Gay MA,García-Hernández FJ,de la Peña PG,Carreira P,Spanish Scleroderma Group.,V

更新日期：2012-06-15 00:00:00

abstract：:Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression of LHON-associated mitochondrial DNA (mtDNA) mutations. By using an exome sequencing approach, we identified a LHON susceptibility allele (c.572G>T, p.191Gly>Val...

journal_title：Human molecular genetics

authors： Jiang P,Jin X,Peng Y,Wang M,Liu H,Liu X,Zhang Z,Ji Y,Zhang J,Liang M,Zhao F,Sun YH,Zhang M,Zhou X,Chen Y,Mo JQ,Huang T,Qu J,Guan MX

更新日期：2016-02-01 00:00:00

abstract：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eyes absent gene, as the gene underlying this syndrome. The products of ...

journal_title：Human molecular genetics

authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Levi-Acobas F,Cruaud C,Le Merrer M,Mathieu M,König R,Vigneron J,Weissenbach J,Petit C,Weil D

更新日期：1997-12-01 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

abstract：:Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality ...

journal_title：Human molecular genetics

authors： Kibar Z,Der Kaloustian VM,Brais B,Hani V,Fraser FC,Rouleau GA

更新日期：1996-04-01 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：:Uniparental disomy (UPD) is defined as the inheritance of both homologs of a given genomic region from only one parent. The majority of UPD includes an entire chromosome. However, the extent of UPD is sometimes limited to a subchromosomal region (segmental UPD). Mosaic paternal UPD (pUPD) of chromosome 11 is found in ...

journal_title：Human molecular genetics

authors： Ohtsuka Y,Higashimoto K,Oka T,Yatsuki H,Jozaki K,Maeda T,Kawahara K,Hamasaki Y,Matsuo M,Nishioka K,Joh K,Mukai T,Soejima H

更新日期：2016-04-01 00:00:00

abstract：:Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some hav...

journal_title：Human molecular genetics

authors： Guo T,Diacou A,Nomaru H,McDonald-McGinn DM,Hestand M,Demaerel W,Zhang L,Zhao Y,Ujueta F,Shan J,Montagna C,Zheng D,Crowley TB,Kushan-Wells L,Bearden CE,Kates WR,Gothelf D,Schneider M,Eliez S,Breckpot J,Swillen A,

更新日期：2018-04-01 00:00:00

abstract：:Abdominal aortic aneurysm (AAA) is a major cause of sudden death in the elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, and AAA-specific medication is lacking. A recent meta-analysis of genome-wide association studies has identifie...

journal_title：Human molecular genetics

authors： Marsman J,Gimenez G,Day RC,Horsfield JA,Jones GT

更新日期：2020-03-13 00:00:00

abstract：:Insulin-like growth factor II (IGF-II) is a mitogen for many cell types and an important modulator of muscle growth and differentiation. IGF-II gene is prevalently expressed during prenatal development and its gene activity is regulated by genomic imprinting, in that the allele inherited from the father is active and ...

journal_title：Human molecular genetics

authors： Pedone PV,Tirabosco R,Cavazzana AO,Ungaro P,Basso G,Luksch R,Carli M,Bruni CB,Frunzio R,Riccio A

更新日期：1994-07-01 00:00:00

abstract：:The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population. We therefore genotyped a large series of path...

journal_title：Human molecular genetics

authors： Singleton AB,Smith G,Gibson AM,Woodward R,Perry RH,Ince PG,Edwardson JA,Morris CM

更新日期：1998-05-01 00:00:00

abstract：:Mucopolysaccharidosis type VI (MPS-VI), caused by mutational inactivation of the glycosaminoglycan-degrading enzyme arylsulfatase B (Arsb), is a lysosomal storage disorder primarily affecting the skeleton. We have previously reported that Arsb-deficient mice display high trabecular bone mass and impaired skeletal grow...

journal_title：Human molecular genetics

authors： Hendrickx G,Danyukova T,Baranowsky A,Rolvien T,Angermann A,Schweizer M,Keller J,Schröder J,Meyer-Schwesinger C,Muschol N,Paganini C,Rossi A,Amling M,Pohl S,Schinke T

更新日期：2020-03-27 00:00:00

abstract：:Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotid...

journal_title：Human molecular genetics

authors： Dols-Icardo O,García-Redondo A,Rojas-García R,Sánchez-Valle R,Noguera A,Gómez-Tortosa E,Pastor P,Hernández I,Esteban-Pérez J,Suárez-Calvet M,Antón-Aguirre S,Amer G,Ortega-Cubero S,Blesa R,Fortea J,Alcolea D,Capdevila A,

更新日期：2014-02-01 00:00:00