Big data collision: the internet of things, wearable devices and genomics in the study of neurological traits and disease.

abstract：:Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical disease caused by weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette-Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon (IFN)-γ immunity. Germline bi...

journal_title：Human molecular genetics

authors： Oleaga-Quintas C,Deswarte C,Moncada-Vélez M,Metin A,Krishna Rao I,Kanık-Yüksek S,Nieto-Patlán A,Guérin A,Gülhan B,Murthy S,Özkaya-Parlakay A,Abel L,Martínez-Barricarte R,Pérez de Diego R,Boisson-Dupuis S,Kong XF,Casanova

更新日期：2018-11-15 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：:Gelsolin amyloidosis is a dominantly inherited, incurable type of amyloidosis. A single point mutation in the gelsolin gene (G654A is most common) results in the loss of a Ca2+  binding site in the second gelsolin domain. Consequently, this domain partly unfolds and exposes an otherwise buried furin cleavage site at t...

journal_title：Human molecular genetics

authors： Verhelle A,Nair N,Everaert I,Van Overbeke W,Supply L,Zwaenepoel O,Peleman C,Van Dorpe J,Lahoutte T,Devoogdt N,Derave W,Chuah MK,VandenDriessche T,Gettemans J

更新日期：2017-04-01 00:00:00

abstract：:The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene. The hypomorphic nature of the mutations is believed to support viability, but this is not always apparent. One such mutation is IVS7+2T>G, which causes premature ...

journal_title：Human molecular genetics

authors： Thirthagiri E,Klarmann KD,Shukla AK,Southon E,Biswas K,Martin BK,North SL,Magidson V,Burkett S,Haines DC,Noer K,Matthai R,Tessarollo L,Loncarek J,Keller JR,Sharan SK

更新日期：2016-05-15 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：:17p13.3 microduplication syndrome is a newly identified genetic disorder characterized by duplications in the 17p13.3 chromosome locus, resulting in a variety of disorders including autism spectrum disorder (ASD). Importantly, a minimum duplication region has been defined, and this region exclusively contains the gene...

journal_title：Human molecular genetics

authors： Cornell B,Wachi T,Zhukarev V,Toyo-Oka K

更新日期：2016-10-15 00:00:00

abstract：:The survival of motor neuron (SMN) protein is mutated in patients with spinal muscular atrophy (SMA). SMN is part of a multiprotein complex required for biogenesis of the Sm class of small nuclear ribonucleoproteins (snRNPs). Following assembly of the Sm core domain, snRNPs are transported to the nucleus via importin ...

journal_title：Human molecular genetics

authors： Narayanan U,Ospina JK,Frey MR,Hebert MD,Matera AG

更新日期：2002-07-15 00:00:00

abstract：:We previously identified Peg1/Mest as a novel paternally expressed gene in the developing mouse embryo. The human PEG1 gene was recently assigned to 7q32 and shown to be imprinted and paternally expressed. Therefore, PEG1 deficiency could participate in the aetiology of pre- and post-natal growth retardation associate...

journal_title：Human molecular genetics

authors： Lefebvre L,Viville S,Barton SC,Ishino F,Surani MA

更新日期：1997-10-01 00:00:00

abstract：:Loss of FMR2 causes Fragile X E (FRAXE) site-associated intellectual disability (ID). FMR2 regulates transcription, promotes alternative splicing with preference for G-quartet structure harbouring exons and is localized to the nuclear speckles. In primary skin fibroblasts from FRAXE patients (n = 8), we found a signif...

journal_title：Human molecular genetics

authors： Melko M,Nguyen LS,Shaw M,Jolly L,Bardoni B,Gecz J

更新日期：2013-08-01 00:00:00

abstract：:Release of amyloid beta (Abeta) from the amyloid precursor protein (APP) requires cleavages by beta- and gamma-secretases and plays a crucial role in Alzheimer's disease (AD) pathogenesis. Missense mutations in the APP gene causing familial AD are clustered around the beta-, alpha- and particular gamma-secretase cleav...

journal_title：Human molecular genetics

authors： De Jonghe C,Esselens C,Kumar-Singh S,Craessaerts K,Serneels S,Checler F,Annaert W,Van Broeckhoven C,De Strooper B

更新日期：2001-08-01 00:00:00

abstract：:The unconventional myosin genes Myo15, Myo6 and Myo7a are essential for hearing in both humans and mice. Despite the expression of each gene in multiple organs, mutations result in identifiable phenotypes only in auditory or ocular sensory organs. The pirouette (pi) mouse also exhibits deafness and an inner ear pathol...

journal_title：Human molecular genetics

authors： Karolyi IJ,Probst FJ,Beyer L,Odeh H,Dootz G,Cha KB,Martin DM,Avraham KB,Kohrman D,Dolan DF,Raphael Y,Camper SA

更新日期：2003-11-01 00:00:00

abstract：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:Increasing evidence suggests that the accumulation of amyloid beta (Aβ) in synapses and synaptic mitochondria causes synaptic mitochondrial failure and synaptic degeneration in Alzheimer's disease (AD). The purpose of this study was to better understand the effects of Aβ in mitochondrial activity and synaptic alterati...

journal_title：Human molecular genetics

authors： Calkins MJ,Manczak M,Mao P,Shirendeb U,Reddy PH

更新日期：2011-12-01 00:00:00

abstract：:Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA prop...

journal_title：Human molecular genetics

authors： Garcia-Barceló MM,Yeung MY,Miao XP,Tang CS,Cheng G,So MT,Ngan ES,Lui VC,Chen Y,Liu XL,Hui KJ,Li L,Guo WH,Sun XB,Tou JF,Chan KW,Wu XZ,Song YQ,Chan D,Cheung K,Chung PH,Wong KK,Sham PC,Cherny SS,Tam PK

更新日期：2010-07-15 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：: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：:The diastrophic dysplasia sulfate transporter (DTDST) gene encodes a transmembrane protein that transports sulfate into chondrocytes to maintain adequate sulfation of proteoglycans. Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epip...

journal_title：Human molecular genetics

authors： Karniski LP

更新日期：2001-07-01 00:00:00

abstract：:Deficiency of the mitochondrial matrix protein frataxin causes Friedreich ataxia. Frataxin function is believed to be related to mitochondrial iron metabolism and free radical production. In Friedreich ataxia, loss of dorsal root ganglia neurons occurs early in life, suggesting a developmental process. In addition, fr...

journal_title：Human molecular genetics

authors： Santos MM,Ohshima K,Pandolfo M

更新日期：2001-09-01 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：:Cardiac hypertrophy, an adaptive process that responds to increased wall stress, is characterized by the enlargement of cardiomyocytes and structural remodeling. It is stimulated by various growth signals, of which the mTORC1 pathway is a well-recognized source. Here, we show that loss of Flcn, a novel AMPK-mTOR inter...

journal_title：Human molecular genetics

authors： Hasumi Y,Baba M,Hasumi H,Huang Y,Lang M,Reindorf R,Oh HB,Sciarretta S,Nagashima K,Haines DC,Schneider MD,Adelstein RS,Schmidt LS,Sadoshima J,Marston Linehan W

更新日期：2014-11-01 00:00:00

abstract：:Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was ...

journal_title：Human molecular genetics

authors： Schneider JA,Peto TE,Boone RA,Boyce AJ,Clegg JB

更新日期：2002-02-01 00:00:00

abstract：:Synapse abnormalities in Huntington's disease (HD) patients can precede clinical diagnosis and neuron loss by decades. The polyglutamine expansion in the huntingtin (htt) protein that underlies this disorder leads to perturbations in many cellular pathways, including the disruption of Rab11-dependent endosomal recycli...

journal_title：Human molecular genetics

authors： Steinert JR,Campesan S,Richards P,Kyriacou CP,Forsythe ID,Giorgini F

更新日期：2012-07-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is among the most common monogenic disorders mainly associated with PKD1/PC1 mutations. We show herein that renal regulation in Pc1 dosage-reduced and -increased mouse models converge toward stimulation of c-Myc expression along with β-catenin, delineating c-Myc as ...

journal_title：Human molecular genetics

authors： Parrot C,Kurbegovic A,Yao G,Couillard M,Côté O,Trudel M

更新日期：2019-03-01 00:00:00

abstract：:Degenerate primer pairs that include consensus sequences of evolutionary conserved portions of protein families (BLOCKs or ancient conserved regions) can be used to screen by polymerase chain reaction (PCR) for cognate cDNAs and YACs through much of phylogeny. Nine such primer pairs were developed, and five with sites...

journal_title：Human molecular genetics

authors： D'Esposito M,Pilia G,Schlessinger D

更新日期：1994-05-01 00:00:00

abstract：:Muscular dystrophies are a group of genetic diseases that lead to muscle wasting and, in most cases, premature death. Cytokines and inflammatory factors are released during the disease process where they promote deleterious signaling events that directly participate in myofiber death. Here, we show that p38α, a kinase...

journal_title：Human molecular genetics

authors： Wissing ER,Boyer JG,Kwong JQ,Sargent MA,Karch J,McNally EM,Otsu K,Molkentin JD

更新日期：2014-10-15 00:00:00

abstract：:One mechanism by which endogenous microRNAs (miRNAs) function is to suppress translation of target mRNAs. Computational identification of target mRNAs is hampered by the partial complementarity between miRNAs and their targets and the lack of in vivo approaches to identify targets. Here, we identify mRNAs that are reg...

journal_title：Human molecular genetics

authors： Nakamoto M,Jin P,O'Donnell WT,Warren ST

更新日期：2005-12-15 00:00:00

abstract：:Common variants in the transcription factor 7-like 2 (TCF7L2) gene have been identified as the strongest genetic risk factors for type 2 diabetes (T2D). However, the mechanisms by which these non-coding variants increase risk for T2D are not well-established. We used 13 expression assays to survey mRNA expression of m...

journal_title：Human molecular genetics

authors： Prokunina-Olsson L,Welch C,Hansson O,Adhikari N,Scott LJ,Usher N,Tong M,Sprau A,Swift A,Bonnycastle LL,Erdos MR,He Z,Saxena R,Harmon B,Kotova O,Hoffman EP,Altshuler D,Groop L,Boehnke M,Collins FS,Hall JL

更新日期：2009-10-15 00:00:00

abstract：:A spectrum of complex oligogenic disorders called the ciliopathies have been connected to dysfunction of cilia. Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and Meckel-Gruber syndrome (MKS), a gestational lethal condition with skeletal abnormaliti...

journal_title：Human molecular genetics

authors： Masyukova SV,Winkelbauer ME,Williams CL,Pieczynski JN,Yoder BK

更新日期：2011-08-01 00:00:00

abstract：:A gene's transcriptional output is the combined product of two inputs: diffusible factors in the cellular milieu acting in trans, and chromatin state acting in cis. Here, we describe a strategy for dissecting the relative contribution of cis versus trans mechanisms to gene regulation. Referred to as trans complementat...

journal_title：Human molecular genetics

authors： Lee JH,Bugarija B,Millan EJ,Walton NM,Gaetz J,Fernandes CJ,Yu WH,Mekel-Bobrov N,Vallender TW,Snyder GE,Xiang AP,Lahn BT

更新日期：2009-03-01 00:00:00

abstract：:Ankylosing spondylitis (AS) remains difficult to diagnose before irreversible damage to sacroiliac joint is noticeable. Circulating microRNAs have demonstrated to serve as diagnostic tools for several human diseases. Here, we analysed plasma microRNAs to identify potential AS biomarkers. Higher expression levels of mi...

journal_title：Human molecular genetics

authors： Perez-Sanchez C,Font-Ugalde P,Ruiz-Limon P,Lopez-Pedrera C,Castro-Villegas MC,Abalos-Aguilera MC,Barbarroja N,Arias-de la Rosa I,Lopez-Montilla MD,Escudero-Contreras A,Lopez-Medina C,Collantes-Estevez E,Jimenez-Gomez Y

更新日期：2018-03-01 00:00:00