APOE ε4/ε4 diminishes neurotrophic function of human iPSC-derived astrocytes.

abstract：:Whether XIST RNA is indifferent to the sequence content of the chromosome is fundamental to understanding its mechanism of chromosomal inactivation. Transgenic Xist RNA appears to associate with and inactivate an entire autosome. However, the behavior of XIST RNA on naturally occurring human X;autosome translocations ...

journal_title：Human molecular genetics

authors： Hall LL,Clemson CM,Byron M,Wydner K,Lawrence JB

更新日期：2002-12-01 00:00:00

abstract：:PTEN-induced putative kinase 1 (PINK1) and Parkin act in a common pathway to regulate mitochondrial dynamics, the involvement of which in the pathogenesis of Parkinson's disease (PD) is increasingly being appreciated. However, how the PINK1/Parkin pathway influences mitochondrial function is not well understood, and t...

journal_title：Human molecular genetics

authors： Yu W,Sun Y,Guo S,Lu B

更新日期：2011-08-15 00:00:00

abstract：:Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone photoreceptor type, but near absence of function of the majority rod receptor. NR2E3 disease can also progress to blindn...

journal_title：Human molecular genetics

authors： Jacobson SG,Sumaroka A,Aleman TS,Cideciyan AV,Schwartz SB,Roman AJ,McInnes RR,Sheffield VC,Stone EM,Swaroop A,Wright AF

更新日期：2004-09-01 00:00:00

abstract：:Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable, identification of genes responsible for its regulation has remained challenging. Genome-wide association study (GWAS) is a novel...

journal_title：Human molecular genetics

authors： Org E,Eyheramendy S,Juhanson P,Gieger C,Lichtner P,Klopp N,Veldre G,Döring A,Viigimaa M,Sõber S,Tomberg K,Eckstein G,KORA.,Kelgo P,Rebane T,Shaw-Hawkins S,Howard P,Onipinla A,Dobson RJ,Newhouse SJ,Brown M,Domini

更新日期：2009-06-15 00:00:00

abstract：:Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. We report here on consortin, a novel integral membrane protein that is predicted to be i...

journal_title：Human molecular genetics

authors： del Castillo FJ,Cohen-Salmon M,Charollais A,Caille D,Lampe PD,Chavrier P,Meda P,Petit C

更新日期：2010-01-15 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, which is translated into an elongated polyglutamine (polyQ) tract in AR protein (ARpolyQ). ARpolyQ toxicity is activated by the AR ligand testosterone (or dihydrotestost...

journal_title：Human molecular genetics

authors： Giorgetti E,Rusmini P,Crippa V,Cristofani R,Boncoraglio A,Cicardi ME,Galbiati M,Poletti A

更新日期：2015-01-01 00:00:00

abstract：:Long non-coding RNAs (lncRNAs) are post-transcriptional and epigenetic regulators, whose implication in neurodegenerative and autoimmune diseases remains poorly understood. We analyzed publicly available microarray data sets to identify dysregulated lncRNAs in multiple sclerosis (MS), a neuroinflammatory autoimmune di...

journal_title：Human molecular genetics

authors： Cardamone G,Paraboschi EM,Soldà G,Cantoni C,Supino D,Piccio L,Duga S,Asselta R

更新日期：2019-05-01 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：:Complement receptor 1 (CR1) is an Alzheimer's disease (AD) susceptibility locus that also influences AD-related traits such as episodic memory decline and neuritic amyloid plaque deposition. We implemented a functional fine-mapping approach, leveraging intermediate phenotypes to identify functional variant(s) within t...

journal_title：Human molecular genetics

authors： Keenan BT,Shulman JM,Chibnik LB,Raj T,Tran D,Sabuncu MR,Alzheimer's Disease Neuroimaging Initiative.,Allen AN,Corneveaux JJ,Hardy JA,Huentelman MJ,Lemere CA,Myers AJ,Nicholson-Weller A,Reiman EM,Evans DA,Bennett DA,De J

更新日期：2012-05-15 00:00:00

abstract：:Fragile X syndrome, a common cause of intellectual disability and autism, is due to mutational silencing of the FMR1 gene leading to the absence of its gene product, fragile X mental retardation protein (FMRP). FMRP is a selective RNA binding protein owing to two central K-homology domains and a C-terminal arginine-gl...

journal_title：Human molecular genetics

authors： Myrick LK,Hashimoto H,Cheng X,Warren ST

更新日期：2015-03-15 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

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：:DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge critical region. We now report that one of them, ZNF74 gene, is hemizygou...

journal_title：Human molecular genetics

authors： Aubry M,Demczuk S,Desmaze C,Aikem M,Aurias A,Julien JP,Rouleau GA

更新日期：1993-10-01 00:00:00

abstract：:Recent genome-wide association studies (GWAS) have revealed genetic risk factors in autoimmune and inflammatory disorders. Several of the associated genes and underlying pathways are shared by various autoimmune diseases. Rheumatoid arthritis (RA) and coeliac disease (CD) are two autoimmune disorders which have common...

journal_title：Human molecular genetics

authors： Coenen MJ,Trynka G,Heskamp S,Franke B,van Diemen CC,Smolonska J,van Leeuwen M,Brouwer E,Boezen MH,Postma DS,Platteel M,Zanen P,Lammers JW,Groen HJ,Mali WP,Mulder CJ,Tack GJ,Verbeek WH,Wolters VM,Houwen RH,Mearin M

更新日期：2009-11-01 00:00:00

abstract：:Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a ...

journal_title：Human molecular genetics

authors： Comino-Méndez I,de Cubas AA,Bernal C,Álvarez-Escolá C,Sánchez-Malo C,Ramírez-Tortosa CL,Pedrinaci S,Rapizzi E,Ercolino T,Bernini G,Bacca A,Letón R,Pita G,Alonso MR,Leandro-García LJ,Gómez-Graña A,Inglada-Pérez L,Manciko

更新日期：2013-06-01 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：:The Taiwan Biobank (TWB) aims to build a nationwide research database that integrates genomic/epigenomic profiles, lifestyle patterns, dietary habits, environmental exposure history and long-term health outcomes of 300,000 residents of Taiwan. We describe here an investigation of the population structure of Han Chines...

journal_title：Human molecular genetics

authors： Chen CH,Yang JH,Chiang CWK,Hsiung CN,Wu PE,Chang LC,Chu HW,Chang J,Song IW,Yang SL,Chen YT,Liu FT,Shen CY

更新日期：2016-12-15 00:00:00

abstract：:Mutations in RP2 cause the second most frequent form of X-linked retinitis pigmentosa, a severe retinal degeneration that leads to loss of visual acuity and blindness. The RP2 gene encodes a protein with homology to cofactor C, a tubulin-folding chaperone. By searching protein sequence databases, we identified a whole...

journal_title：Human molecular genetics

authors： Schwahn U,Paland N,Techritz S,Lenzner S,Berger W

更新日期：2001-05-15 00:00:00

abstract：:An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part...

journal_title：Human molecular genetics

authors： Friederich MW,Erdogan AJ,Coughlin CR 2nd,Elos MT,Jiang H,O'Rourke CP,Lovell MA,Wartchow E,Gowan K,Chatfield KC,Chick WS,Spector EB,Van Hove JLK,Riemer J

更新日期：2017-02-15 00:00:00

abstract：:Genetic and environmental influences are thought to interact in their contribution to the etiology of major neuropsychiatric disorders. One of the best replicated findings obtained in genome-wide association studies are genetic variants in the CACNA1C gene. Here, we used our constitutive heterozygous Cacna1c rat model...

journal_title：Human molecular genetics

authors： Braun MD,Kisko TM,Witt SH,Rietschel M,Schwarting RKW,Wöhr M

更新日期：2019-12-15 00:00:00

abstract：:Human gene expression traits have been shown to be dependent on gender, age and time of day in blood and other tissues. However, other factors that may impact gene expression have not been systematically explored. For example, in studies linking blood gene expression to obesity related traits, whether the fasted or fe...

journal_title：Human molecular genetics

authors： Leonardson AS,Zhu J,Chen Y,Wang K,Lamb JR,Reitman M,Emilsson V,Schadt EE

更新日期：2010-01-01 00:00:00

abstract：:Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart disease. Although FH is usually caused by mutations in LDLR, mutations in APOB and PCSK9 also cause FH but only a few mutations have been repor...

journal_title：Human molecular genetics

authors： Alves AC,Etxebarria A,Soutar AK,Martin C,Bourbon M

更新日期：2014-04-01 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：:The X-linked reproductive homeobox (RHOX) gene cluster encodes transcription factors preferentially expressed in reproductive tissues. This gene cluster has important roles in male fertility based on phenotypic defects of Rhox-mutant mice and the finding that aberrant RHOX promoter methylation is strongly associated w...

journal_title：Human molecular genetics

authors： Borgmann J,Tüttelmann F,Dworniczak B,Röpke A,Song HW,Kliesch S,Wilkinson MF,Laurentino S,Gromoll J

更新日期：2016-11-15 00:00:00

abstract：:SPEG, a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in skeletal muscles. In humans, SPEG mutations are associated with centronuclear myopathy and cardiomyopathy. Using a striated muscle specific Speg-knockout (KO) mouse model, we have previously shown that ...

journal_title：Human molecular genetics

authors： Luo S,Li Q,Lin J,Murphy Q,Marty I,Zhang Y,Kazerounian S,Agrawal PB

更新日期：2020-12-23 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：:Pathological modifications in the microtubule-associated protein Tau is a common characteristic observed in different neurological diseases, suggesting that analogous metabolic pathways might be similarly affected during neurodegeneration. To identify these molecules and mechanisms, we utilized Drosophila models of hu...

journal_title：Human molecular genetics

authors： Appocher C,Klima R,Feiguin F

更新日期：2014-12-20 00:00:00

abstract：:Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction...

journal_title：Human molecular genetics

authors： Mansouri K,Mostafie A,Rezazadeh D,Shahlaei M,Modarressi MH

更新日期：2016-01-15 00:00:00

abstract：:Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mutation, Arg527His, ...

journal_title：Human molecular genetics

authors： Agarwal AK,Fryns JP,Auchus RJ,Garg A

更新日期：2003-08-15 00:00:00

abstract：:Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia. Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome. To date, only patient-derived lymphoblastoid cells, fibroblasts and SETX k...

journal_title：Human molecular genetics

authors： Becherel OJ,Sun J,Yeo AJ,Nayler S,Fogel BL,Gao F,Coppola G,Criscuolo C,De Michele G,Wolvetang E,Lavin MF

更新日期：2015-10-15 00:00:00