Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

abstract：:Schizophrenia is a severely debilitating psychiatric disease that is hypothesized to have its roots in neurodevelopment. Although the precise neuropathology underlying schizophrenia has remained elusive, there are consistent reports of abnormalities in several brain areas. Chief among these is the hippocampus, an area...

journal_title：Human molecular genetics

authors： Meyer KD,Morris JA

更新日期：2009-09-01 00:00:00

abstract：:Successful human development is dependent upon a cascade of events following fertilization. Unfortunately, knowledge of these critical events in humans is remarkably incomplete. Although hundreds of thousands of human embryos are cultured yearly at infertility centers worldwide, the vast majority fail to develop in cu...

journal_title：Human molecular genetics

authors： Dobson AT,Raja R,Abeyta MJ,Taylor T,Shen S,Haqq C,Pera RA

更新日期：2004-07-15 00:00:00

abstract：:Niemann-Pick C1 (NPC1) disease is a rare, neurodegenerative lysosomal cholesterol storage disorder, typified by progressive cognitive and motor function impairment. Affected individuals usually succumb to the disease in adolescence. 2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) has emerged as a promising intervention that ...

journal_title：Human molecular genetics

authors： Tortelli B,Fujiwara H,Bagel JH,Zhang J,Sidhu R,Jiang X,Yanjanin NM,Shankar RK,Carillo-Carasco N,Heiss J,Ottinger E,Porter FD,Schaffer JE,Vite CH,Ory DS

更新日期：2014-11-15 00:00:00

abstract：:Leukocyte telomere length (LTL) might be causal in cardiovascular disease and major cancers. To elucidate the roles of genetics and geography in LTL variability across humans, we compared LTL measured in 1295 sub-Saharan Africans (SSAs) with 559 African-Americans (AAms) and 2464 European-Americans (EAms). LTL differed...

journal_title：Human molecular genetics

authors： Hunt SC,Hansen MEB,Verhulst S,McQuillan MA,Beggs W,Lai TP,Mokone GG,Mpoloka SW,Meskel DW,Belay G,Nyambo TB,Abnet CC,Yeager M,Chanock SJ,Province MA,Williams SM,Aviv A,Tishkoff SA

更新日期：2020-11-04 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is a complex congenital syndrome caused by a monoallelic deletion of the short arm of chromosome 4. Seizures in WHS have been associated with deletion of LETM1 gene. LETM1 encodes for the human homologue of yeast Mdm38p, a mitochondria-shaping protein of unclear function. Here we show th...

journal_title：Human molecular genetics

authors： Dimmer KS,Navoni F,Casarin A,Trevisson E,Endele S,Winterpacht A,Salviati L,Scorrano L

更新日期：2008-01-15 00:00:00

abstract：:Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients in their third to fourth decade of life. BrS is inherited as an autosomal dominant trait; however, to date genetic bases have been onl...

journal_title：Human molecular genetics

authors： Di Resta C,Pietrelli A,Sala S,Della Bella P,De Bellis G,Ferrari M,Bordoni R,Benedetti S

更新日期：2015-10-15 00:00:00

abstract：:An important class of genetic variants that affect disease susceptibility may lie within regulatory elements that influence gene expression. Regulatory sequences are difficult to identify and may be distant from the genes they regulate, but many lie within evolutionarily conserved regions (ECRs). We used comparative g...

journal_title：Human molecular genetics

authors： Palles C,Johnson N,Coupland B,Taylor C,Carvajal J,Holly J,Fentiman IS,Silva Idos S,Ashworth A,Peto J,Fletcher O

更新日期：2008-05-15 00:00:00

abstract：:Mutations in DNAJC13 gene have been linked to familial form of Parkinson's disease (PD) with Lewy pathology. DNAJC13 is an endosome-related protein and believed to regulate endosomal membrane trafficking. However, the mechanistic link between DNAJC13 mutation and α-synuclein (αSYN) pathology toward neurodegeneration r...

journal_title：Human molecular genetics

authors： Yoshida S,Hasegawa T,Suzuki M,Sugeno N,Kobayashi J,Ueyama M,Fukuda M,Ido-Fujibayashi A,Sekiguchi K,Ezura M,Kikuchi A,Baba T,Takeda A,Mochizuki H,Nagai Y,Aoki M

更新日期：2018-03-01 00:00:00

abstract：:Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado-Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent cysteine proteases, are important mediators of ataxin-3 cleavage and imp...

journal_title：Human molecular genetics

authors： Weber JJ,Haas E,Maringer Y,Hauser S,Casadei NLP,Chishti AH,Riess O,Hübener-Schmid J

更新日期：2020-04-15 00:00:00

abstract：:Coproporphyrinogen oxidase is a mitochondrial heme-biosynthetic enzyme that converts coproporphyrinogen to protoporphyrinogen. Inherited deficiency of this enzyme causes the human genetic disease hereditary coproporphyria. Recently, we isolated, sequenced and expressed the cDNA encoding human coproporphyrinogen oxidas...

journal_title：Human molecular genetics

authors： Martasek P,Nordmann Y,Grandchamp B

更新日期：1994-03-01 00:00:00

abstract：:Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse. Whirlin is known to be essential for the elongation process of the stereocilia of sensory hair cells in the inner ear, though its complete spatial and temporal expression patterns remained elusive. H...

journal_title：Human molecular genetics

authors： van Wijk E,van der Zwaag B,Peters T,Zimmermann U,Te Brinke H,Kersten FF,Märker T,Aller E,Hoefsloot LH,Cremers CW,Cremers FP,Wolfrum U,Knipper M,Roepman R,Kremer H

更新日期：2006-03-01 00:00:00

abstract：:Glycosylation with O-linked β-N-acetylglucosamine (O-GlcNAc) is one of the protein glycosylations affecting various intracellular events. However, the role of O-GlcNAcylation in neurodegenerative diseases such as Alzheimer's disease (AD) is poorly understood. Mitochondrial adenosine 5'-triphosphate (ATP) synthase is a...

journal_title：Human molecular genetics

authors： Cha MY,Cho HJ,Kim C,Jung YO,Kang MJ,Murray ME,Hong HS,Choi YJ,Choi H,Kim DK,Choi H,Kim J,Dickson DW,Song HK,Cho JW,Yi EC,Kim J,Jin SM,Mook-Jung I

更新日期：2015-11-15 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：:Neurofibromas are common tumors found in neurofibromatosis type 1 (NF1) patients. These complex tumors are composed of Schwann cells, mast cells, fibroblasts and perineurial cells embedded in collagen that provide a lattice for tumor invasion. Genetic studies demonstrate that in neurofibromas, nullizygous loss of Nf1 ...

journal_title：Human molecular genetics

authors： Yang FC,Chen S,Clegg T,Li X,Morgan T,Estwick SA,Yuan J,Khalaf W,Burgin S,Travers J,Parada LF,Ingram DA,Clapp DW

更新日期：2006-08-15 00:00:00

abstract：:In model organisms, over 2,000 genes have been shown to modulate aging, the collection of which we call the ‘gerontome’. Although some individual aging-related genes have been the subject of intense scrutiny, their analysis as a whole has been limited. In particular, the genetic interaction of aging and age-related pa...

journal_title：Human molecular genetics

authors： Fernandes M,Wan C,Tacutu R,Barardo D,Rajput A,Wang J,Thoppil H,Thornton D,Yang C,Freitas A,de Magalhães JP

更新日期：2016-11-01 00:00:00

abstract：:Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. ...

journal_title：Human molecular genetics

authors： Yang N,Wu N,Zhang L,Zhao Y,Liu J,Liang X,Ren X,Li W,Chen W,Dong S,Zhao S,Lin J,Xiang H,Xue H,Chen L,Sun H,Zhang J,Shi J,Zhang S,Lu D,Wu X,Jin L,Ding J,Qiu G,Wu Z,Lupski JR,Zhang F

更新日期：2019-02-15 00:00:00

abstract：:Alterations in mitochondrial DNA (mtDNA) and consequent loss of mitochondrial function underlie the mitochondrial theory of aging. In this study, we systematically analyzed the mtDNA control region somatic mutation pattern in 2864 single hematopoietic stem cells (HSCs) and progenitors, isolated by flow cytometry sorti...

journal_title：Human molecular genetics

authors： Yao YG,Ellison FM,McCoy JP,Chen J,Young NS

更新日期：2007-02-01 00:00:00

abstract：:Homozygosity for Cst6 null alleles causes the phenotype of the ichq mouse, which is a model for human harlequin ichthyosis (OMIM 242500), a genetically heterogeneous group of keratinization disorders. Here we report evidence for the mechanism by which deficiency of the cysteine protease inhibitor cystatin M/E (the Cst...

journal_title：Human molecular genetics

authors： Zeeuwen PL,van Vlijmen-Willems IM,Olthuis D,Johansen HT,Hitomi K,Hara-Nishimura I,Powers JC,James KE,op den Camp HJ,Lemmens R,Schalkwijk J

更新日期：2004-05-15 00:00:00

abstract：:According to the telomere hypothesis of senescence, the progressive shortening of telomeres that occurs upon division of normal somatic cells eventually leads to cellular senescence. The immortalisation of human cells is associated with the acquisition of a telomere maintenance mechanism which is usually dependent upo...

journal_title：Human molecular genetics

authors： Bryan TM,Marusic L,Bacchetti S,Namba M,Reddel RR

更新日期：1997-06-01 00:00:00

abstract：:Migraine affects ∼14% of the world's population, though not all predisposing causal risk factors are known. We used electronic health records, genetic co-heritability analysis, and a two-sample Mendelian Randomization (MR) design to determine if elevated serum calcium levels were associated with risk of migraine heada...

journal_title：Human molecular genetics

authors： Yin P,Anttila V,Siewert KM,Palotie A,Davey Smith G,Voight BF

更新日期：2017-02-15 00:00:00

abstract：:The first 17 amino acids of Huntington's disease (HD) protein, huntingtin, comprise an amphipathic alpha-helical domain that can target huntingtin to the endoplasmic reticulum (ER). N17 is phosphorylated at two serines, shown to be important for disease development in genetic mouse models, and shown to be modified by ...

journal_title：Human molecular genetics

authors： Maiuri T,Woloshansky T,Xia J,Truant R

更新日期：2013-04-01 00:00:00

abstract：:The planar cell polarity (PCP) pathway, incorporating non-canonical Wnt signalling, controls embryonic convergent (CE) extension, polarized cell division and ciliary orientation. It also limits diameters of differentiating renal tubules, with mutation of certain components of the pathway causing cystic kidneys. Mutati...

journal_title：Human molecular genetics

authors： Yates LL,Papakrivopoulou J,Long DA,Goggolidou P,Connolly JO,Woolf AS,Dean CH

更新日期：2010-12-01 00:00:00

abstract：:Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. Th...

journal_title：Human molecular genetics

authors： McGrath JA,Duijf PH,Doetsch V,Irvine AD,de Waal R,Vanmolkot KR,Wessagowit V,Kelly A,Atherton DJ,Griffiths WA,Orlow SJ,van Haeringen A,Ausems MG,Yang A,McKeon F,Bamshad MA,Brunner HG,Hamel BC,van Bokhoven H

更新日期：2001-02-01 00:00:00

abstract：:We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter ...

journal_title：Human molecular genetics

authors： Bugge M,Collins A,Hertz JM,Eiberg H,Lundsteen C,Brandt CA,Bak M,Hansen C,Delozier CD,Lespinasse J,Tranebjaerg L,Hahnemann JM,Rasmussen K,Bruun-Petersen G,Duprez L,Tommerup N,Petersen MB

更新日期：2007-08-15 00:00:00

abstract：:Congenital heart defects affect at least 0.8% of newborn children and are a major cause of lethality prior to birth. Malformations of the arterial pole are particularly frequent. The myocardium at the base of the pulmonary trunk and aorta and the arterial tree associated with these great arteries are derived from spla...

journal_title：Human molecular genetics

authors： Vincent SD,Mayeuf-Louchart A,Watanabe Y,Brzezinski JA 4th,Miyagawa-Tomita S,Kelly RG,Buckingham M

更新日期：2014-10-01 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：:A genetic contribution to the pathogenesis of panic disorder has been demonstrated by clinical genetic studies. Molecular genetic studies have focused on candidate genes suggested by the molecular mechanisms implied in the action of drugs utilized for therapy or in challenge tests. One class of drugs effective in the ...

journal_title：Human molecular genetics

authors： Deckert J,Catalano M,Syagailo YV,Bosi M,Okladnova O,Di Bella D,Nöthen MM,Maffei P,Franke P,Fritze J,Maier W,Propping P,Beckmann H,Bellodi L,Lesch KP

更新日期：1999-04-01 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：: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

abstract：:In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a...

journal_title：Human molecular genetics

authors： Mustapha M,Weil D,Chardenoux S,Elias S,El-Zir E,Beckmann JS,Loiselet J,Petit C

更新日期：1999-03-01 00:00:00