Blepharophimosis syndrome is linked to chromosome 3q.

abstract：:Proteins with iron-sulfur (Fe-S) clusters participate in multiple metabolic pathways throughout the cell. The mitochondrial ABC half-transporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functional ortholog of yeast Atm1p and is predicted to export a mitochondrially derived m...

journal_title：Human molecular genetics

authors： Pondarré C,Antiochos BB,Campagna DR,Clarke SL,Greer EL,Deck KM,McDonald A,Han AP,Medlock A,Kutok JL,Anderson SA,Eisenstein RS,Fleming MD

更新日期：2006-03-15 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：:Changes to islet cell identity in response to type 2 diabetes (T2D) have been reported in rodent models, but are less well characterized in humans. We assessed the effects of aspects of the diabetic microenvironment on hormone staining, total gene expression, splicing regulation and the alternative splicing patterns o...

journal_title：Human molecular genetics

authors： Jeffery N,Richardson S,Chambers D,Morgan NG,Harries LW

更新日期：2019-08-15 00:00:00

abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

journal_title：Human molecular genetics

authors： van Reeuwijk J,Arts HH,Roepman R

更新日期：2011-10-15 00:00:00

abstract：:Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA,...

journal_title：Human molecular genetics

authors： Heidari A,Tongsook C,Najafipour R,Musante L,Vasli N,Garshasbi M,Hu H,Mittal K,McNaughton AJ,Sritharan K,Hudson M,Stehr H,Talebi S,Moradi M,Darvish H,Arshad Rafiq M,Mozhdehipanah H,Rashidinejad A,Samiei S,Ghadami M,

更新日期：2015-10-15 00:00:00

abstract：:Gamma glutamyl cysteine ligase (GCL) is the rate-limiting enzyme for intracellular glutathione (GSH) synthesis. The GSH concentration and GCL activity are declining with age in the central nervous system (CNS), and is accompanied by elevated reactive oxygen species (ROS). To study the biological effects of low GSH lev...

journal_title：Human molecular genetics

authors： Feng W,Rosca M,Fan Y,Hu Y,Feng P,Lee HG,Monnier VM,Fan X

更新日期：2017-04-01 00:00:00

abstract：:Functional and genomic approaches can be integrated to screen efficiently for pathogenic alleles in founder populations. We applied such approaches to analysis of the cancer-associated cell cycle regulator CHEK2 in the Ashkenazi Jewish population. We first identified two extended haplotypes at CHEK2 that co-segregated...

journal_title：Human molecular genetics

authors： Shaag A,Walsh T,Renbaum P,Kirchhoff T,Nafa K,Shiovitz S,Mandell JB,Welcsh P,Lee MK,Ellis N,Offit K,Levy-Lahad E,King MC

更新日期：2005-02-15 00:00:00

abstract：:We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, ind...

journal_title：Human molecular genetics

authors： Forbes JR,Cox DW

更新日期：2000-08-12 00:00:00

abstract：:Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated ...

journal_title：Human molecular genetics

authors： Thomasson R,Vignier N,Peccate C,Mougenot N,Noirez P,Muchir A

更新日期：2019-07-01 00:00:00

abstract：:The development of small animal models is of major interest to unravel the pathogenesis and treatment of neurodegenerative diseases, especially because of their potential in large-scale chemical and genetic screening. We have investigated the zebrafish as a model to study amyotrophic lateral sclerosis (ALS), a fatal n...

journal_title：Human molecular genetics

authors： Lemmens R,Van Hoecke A,Hersmus N,Geelen V,D'Hollander I,Thijs V,Van Den Bosch L,Carmeliet P,Robberecht W

更新日期：2007-10-01 00:00:00

abstract：:Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG/polyglutamine repeat expansion. We have previously generated mice that are transgenic for exon 1 of the HD gene carrying highly expanded CAG repeats which develop a progressive movement disorder an...

journal_title：Human molecular genetics

authors： Sathasivam K,Hobbs C,Turmaine M,Mangiarini L,Mahal A,Bertaux F,Wanker EE,Doherty P,Davies SW,Bates GP

更新日期：1999-05-01 00:00:00

abstract：:Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the epidermal growth factor homology domain repeat A of the low-density lipoprotein receptor (LDLR) at the cell surface and disrupts recycling of the internalized LDLR. As a consequence, the LDLR is rerouted to the lysosomes for degradation. Although PCSK9...

journal_title：Human molecular genetics

authors： Tveten K,Holla ØL,Cameron J,Strøm TB,Berge KE,Laerdahl JK,Leren TP

更新日期：2012-03-15 00:00:00

abstract：:The ultimate goal of muscular dystrophy gene therapy is to treat all muscles in the body. Global gene delivery was demonstrated in dystrophic mice more than a decade ago using adeno-associated virus (AAV). However, translation to affected large mammals has been challenging. The only reported attempt was performed in n...

journal_title：Human molecular genetics

authors： Yue Y,Pan X,Hakim CH,Kodippili K,Zhang K,Shin JH,Yang HT,McDonald T,Duan D

更新日期：2015-10-15 00:00:00

abstract：:The molecular genetic events underlying endometrial tumorigenesis are ill-defined at present. We have identified a region on the short arm of chromosome 1 which is frequently deleted in endometrial cancers. The region of deletion has been localized to bands 1p32-33. Deletion of 1p32-33 is seen more frequently in cance...

journal_title：Human molecular genetics

authors： Arlt MF,Herzog TJ,Mutch DG,Gersell DJ,Liu H,Goodfellow PJ

更新日期：1996-07-01 00:00:00

abstract：:During mitosis, Kif11, a kinesin motor protein, promotes bipolar spindle formation and chromosome movement, and during interphase, Kif11 mediates diverse trafficking processes in the cytoplasm. In humans, inactivating mutations in KIF11 are associated with (1) retinal hypovascularization with or without microcephaly a...

journal_title：Human molecular genetics

authors： Wang Y,Smallwood PM,Williams J,Nathans J

更新日期：2020-05-08 00:00:00

abstract：:Clinical observations and epidemiologic studies suggest that the incidence of head and neck squamous cell carcinoma (HNSCC) correlates with dental hygiene, implying a role for bacteria-induced inflammation in its pathogenesis. Here we begin to explore the pilot hypothesis that specific microbial populations may contri...

journal_title：Human molecular genetics

authors： Bebek G,Bennett KL,Funchain P,Campbell R,Seth R,Scharpf J,Burkey B,Eng C

更新日期：2012-04-01 00:00:00

abstract：:Parkinson's disease (PD) is characterized by selective degeneration of dopaminergic neurons. Although the etiology of PD remains incompletely understood, oxidative stress has been implicated as an important contributor in the development of PD. Oxidative stress can lead to oxidation and functional perturbation of prot...

journal_title：Human molecular genetics

authors： Johnson WM,Yao C,Siedlak SL,Wang W,Zhu X,Caldwell GA,Wilson-Delfosse AL,Mieyal JJ,Chen SG

更新日期：2015-03-01 00:00:00

abstract：:Directed hepatocyte differentiation from human induced pluripotent stem cells (iPSCs) potentially provides a unique platform for modeling liver genetic diseases and performing drug-toxicity screening in vitro. Wilson's disease is a genetic disease caused by mutations in the ATP7B gene, whose product is a liver transpo...

journal_title：Human molecular genetics

authors： Zhang S,Chen S,Li W,Guo X,Zhao P,Xu J,Chen Y,Pan Q,Liu X,Zychlinski D,Lu H,Tortorella MD,Schambach A,Wang Y,Pei D,Esteban MA

更新日期：2011-08-15 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：:We isolated peroxisome biogenesis mutants ZP128 and ZP150 from rat PEX2 -transformed Chinese hamster ovary (CHO) cells, by the 9-(1'-pyrene)nonanol/ultraviolet method. The mutants lacked morphologically recognizable peroxisomes and showed a typical peroxisome assembly-defective phenotype such as a high sensitivity to ...

journal_title：Human molecular genetics

authors： Toyama R,Mukai S,Itagaki A,Tamura S,Shimozawa N,Suzuki Y,Kondo N,Wanders RJ,Fujiki Y

更新日期：1999-09-01 00:00:00

abstract：:Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five ...

journal_title：Human molecular genetics

authors： Bottai D,Spreafico M,Pistocchi A,Fazio G,Adami R,Grazioli P,Canu A,Bragato C,Rigamonti S,Parodi C,Cazzaniga G,Biondi A,Cotelli F,Selicorni A,Massa V

更新日期：2019-01-01 00:00:00

abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

journal_title：Human molecular genetics

authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

更新日期：2011-02-01 00:00:00

abstract：:XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of ...

journal_title：Human molecular genetics

authors： Schiebel K,Winkelmann M,Mertz A,Xu X,Page DC,Weil D,Petit C,Rappold GA

更新日期：1997-10-01 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：: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：:Twist1 is a basic helix-loop-helix transcription factor, essential during early development in mammals. While Twist1 induces epithelial-to-mesenchymal transition (EMT), here we show that Twist1 overexpression enhances nuclear and mitotic aberrations. This is accompanied by an increase in whole chromosomal copy number ...

journal_title：Human molecular genetics

authors： Khot M,Sreekumar D,Jahagirdar S,Kulkarni A,Hari K,Faseela EE,Sabarinathan R,Jolly MK,Sengupta K

更新日期：2020-06-27 00:00:00

abstract：:While constructing a cDNA library of human embryos, we have isolated a clone homologous to jumonji, a mouse gene required for neural tube formation. We have determined the complete coding sequence of the human homologue (JMJ) and deduced the amino acid sequence of the putative protein. We show here that human and mous...

journal_title：Human molecular genetics

authors： Bergé-Lefranc JL,Jay P,Massacrier A,Cau P,Mattei MG,Bauer S,Marsollier C,Berta P,Fontes M

更新日期：1996-10-01 00:00:00

abstract：:α-Mannosidosis is a lysosomal storage disorder caused by mutations in the MAN2B1 gene. The clinical presentation of α-mannosidosis is variable, but typically includes mental retardation, skeletal abnormalities and immune deficiency. In order to understand the molecular aetiology of α-mannosidosis, we describe here the...

journal_title：Human molecular genetics

authors： Kuokkanen E,Riise Stensland HM,Smith W,Kjeldsen Buvang E,Van Nguyen L,Nilssen Ø,Heikinheimo P

更新日期：2011-07-01 00:00:00

abstract：:We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown. Here, we demonstrate that TOPORS...

journal_title：Human molecular genetics

authors： Chakarova CF,Khanna H,Shah AZ,Patil SB,Sedmak T,Murga-Zamalloa CA,Papaioannou MG,Nagel-Wolfrum K,Lopez I,Munro P,Cheetham M,Koenekoop RK,Rios RM,Matter K,Wolfrum U,Swaroop A,Bhattacharya SS

更新日期：2011-03-01 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and 10 (K1 and K10) in patients with this disease. Structure-function models predict that these mutations would impair normal...

journal_title：Human molecular genetics

authors： Rothnagel JA,Fisher MP,Axtell SM,Pittelkow MR,Anton-Lamprecht I,Huber M,Hohl D,Roop DR

更新日期：1993-12-01 00:00:00