Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology.

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：:Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Previous data have shown that MECP2 RNA is present in all mouse and human tissues tested, but the timing of expression and regional distribution have not been explored. We investigated the spatial...

journal_title：Human molecular genetics

authors： Shahbazian MD,Antalffy B,Armstrong DL,Zoghbi HY

更新日期：2002-01-15 00:00:00

abstract：:The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene...

journal_title：Human molecular genetics

authors： Wang J,Pansky A,Venuti JM,Yaffe D,Nudel U

更新日期：1998-04-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of Survival Motor Neuron-1 (SMN1). The clinical features of the disease are caused by specific degeneration of alpha-motor neurons in the spinal c...

journal_title：Human molecular genetics

authors： Lorson CL,Rindt H,Shababi M

更新日期：2010-04-15 00:00:00

abstract：:The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21...

journal_title：Human molecular genetics

authors： Rötig A,Bourgeron T,Chretien D,Rustin P,Munnich A

更新日期：1995-08-01 00:00:00

abstract：:Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. Neurobehavioral studies determined that ∼70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). We ...

journal_title：Human molecular genetics

authors： Lacaria M,Spencer C,Gu W,Paylor R,Lupski JR

更新日期：2012-07-15 00:00:00

abstract：:Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies betwee...

journal_title：Human molecular genetics

authors： Cross SH,McKie L,West K,Coghill EL,Favor J,Bhattacharya S,Brown SD,Jackson IJ

更新日期：2011-01-15 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：: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：:Nebulin is a large skeletal muscle protein wound around the thin filaments, with its C-terminus embedded within the Z-disk and its N-terminus extending out toward the thin filament pointed end. While nebulin's C-terminus has been implicated in both sarcomeric structure and function as well as the development of nemali...

journal_title：Human molecular genetics

authors： Li F,Barton ER,Granzier H

更新日期：2019-05-15 00:00:00

abstract：:Nicotine is thought to act on brain monoamine systems that normally mediate diverse motivational behaviors. How monoamine-related genes contribute to behavioral traits (e.g. responses to novel stimuli) comorbid with the susceptibility to nicotine addiction is still poorly understood. We examined the impact of constitu...

journal_title：Human molecular genetics

authors： Agatsuma S,Lee M,Zhu H,Chen K,Shih JC,Seif I,Hiroi N

更新日期：2006-09-15 00:00:00

abstract：:Disruption of the blood-brain barrier (BBB) is a serious complication frequently encountered in neurodegenerative disorders. Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating childhood neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase-1 (PPT1) deficiency. It remains u...

journal_title：Human molecular genetics

authors： Saha A,Sarkar C,Singh SP,Zhang Z,Munasinghe J,Peng S,Chandra G,Kong E,Mukherjee AB

更新日期：2012-05-15 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no available therapy. SMA is caused by loss or mutation of the survival motor neuron 1 gene, SMN1, with retention of a nearly identical copy gene, SMN2. In contrast to SMN1, most SMN2 transcripts lack exon 7. This alternatively splic...

journal_title：Human molecular genetics

authors： Heier CR,DiDonato CJ

更新日期：2009-04-01 00:00:00

abstract：:In mammals, sperm-oocyte fusion initiates Ca(2+) oscillations leading to a series of events called oocyte activation, which is the first stage of embryo development. Ca(2+) signaling is elicited by the delivery of an oocyte-activating factor by the sperm. A sperm-specific phospholipase C (PLCZ1) has emerged as the lik...

journal_title：Human molecular genetics

authors： Escoffier J,Lee HC,Yassine S,Zouari R,Martinez G,Karaouzène T,Coutton C,Kherraf ZE,Halouani L,Triki C,Nef S,Thierry-Mieg N,Savinov SN,Fissore R,Ray PF,Arnoult C

更新日期：2016-03-01 00:00:00

abstract：:A functional genetic screen using loss-of-function and gain-of-function alleles was performed to identify modifiers of tau-induced neurotoxicity using the 2N/4R (full-length) isoform of wild-type human tau expressed in the fly retina. We previously reported eye pigment mutations, which create dysfunctional lysosomes, ...

journal_title：Human molecular genetics

authors： Ambegaokar SS,Jackson GR

更新日期：2011-12-15 00:00:00

abstract：:Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oli...

journal_title：Human molecular genetics

authors： Longo F,Benedetti S,Zambon AA,Sora MGN,Di Resta C,De Ritis D,Quattrini A,Maltecca F,Ferrari M,Previtali SC

更新日期：2020-01-15 00:00:00

abstract：:We present the analysis of a prospective multicentre study to investigate genetic effects on the prognosis of newly treated epilepsy. Patients with a new clinical diagnosis of epilepsy requiring medication were recruited and followed up prospectively. The clinical outcome was defined as freedom from seizures for a min...

journal_title：Human molecular genetics

authors： Speed D,Hoggart C,Petrovski S,Tachmazidou I,Coffey A,Jorgensen A,Eleftherohorinou H,De Iorio M,Todaro M,De T,Smith D,Smith PE,Jackson M,Cooper P,Kellett M,Howell S,Newton M,Yerra R,Tan M,French C,Reuber M,Sills

更新日期：2014-01-01 00:00:00

abstract：:Even though heritability estimates suggest that the risk of asthma, hay fever and eczema is largely due to genetic factors, previous studies have not explained a large part of the genetics behind these diseases. In this genome-wide association study, we include 346 545 Caucasians from the UK Biobank to identify novel ...

journal_title：Human molecular genetics

authors： Johansson Å,Rask-Andersen M,Karlsson T,Ek WE

更新日期：2019-12-01 00:00:00

abstract：:Most quantitative trait loci (QTL) studies have focused on detecting the genetic effects of individual QTLs. This study thoroughly dissected the genetic components of type 2 diabetic mice, including a search for epistatic interactions and multi-locus additive effects that result in variation in diabetes-related phenot...

journal_title：Human molecular genetics

authors： Togawa K,Moritani M,Yaguchi H,Itakura M

更新日期：2006-01-01 00:00:00

abstract：:Alzheimer's disease (AD) and Parkinson's disease (PD), the two most common neurodegenerative disorders in the elderly, have been hypothesized to share genetic determinants. Recently, Li et al. proposed that a variant in the NEDD9 gene may be one of these common genetic factors. We attempted to confirm this initial obs...

journal_title：Human molecular genetics

authors： Chapuis J,Moisan F,Mellick G,Elbaz A,Silburn P,Pasquier F,Hannequin D,Lendon C,Campion D,Amouyel P,Lambert JC

更新日期：2008-09-15 00:00:00

abstract：:Adult body height is a quantitative trait for which genome-wide association studies (GWAS) have identified numerous loci, primarily in European populations. These loci, comprising common variants, explain <10% of the phenotypic variance in height. We searched for novel associations between height and common (minor all...

journal_title：Human molecular genetics

authors： Du M,Auer PL,Jiao S,Haessler J,Altshuler D,Boerwinkle E,Carlson CS,Carty CL,Chen YD,Curtis K,Franceschini N,Hsu L,Jackson R,Lange LA,Lettre G,Monda KL,National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing

更新日期：2014-12-15 00:00:00

abstract：:Galphaq, encoded by the human GNAQ gene, is an effector subunit of the Gq heterotrimeric G-protein and the convergence point for signaling of multiple Gq-coupled neurohormonal receptors. To identify naturally occurring mutations that could modify GNAQ transcription, we examined genomic DNA isolated from 355 normal sub...

journal_title：Human molecular genetics

authors： Liggett SB,Kelly RJ,Parekh RR,Matkovich SJ,Benner BJ,Hahn HS,Syed FM,Galvez AS,Case KL,McGuire N,Odley AM,Sparks L,Kardia SL,Dorn GW 2nd

更新日期：2007-11-15 00:00:00

abstract：:We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...

journal_title：Human molecular genetics

authors： Holt IJ,Dunbar DR,Jacobs HT

更新日期：1997-08-01 00:00:00

abstract：:Changes in gene expression resulting from epigenetic and/or genetic changes play an important role in the evolutionary divergence of phenotypes. To explore how epigenetic and genetic changes are linked during primate evolution, we have compared the genome-wide DNA methylation profiles (methylomes) of humans and chimpa...

journal_title：Human molecular genetics

authors： Fukuda K,Inoguchi Y,Ichiyanagi K,Ichiyanagi T,Go Y,Nagano M,Yanagawa Y,Takaesu N,Ohkawa Y,Imai H,Sasaki H

更新日期：2017-09-15 00:00:00

abstract：:Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by the absence of submucosal and myenteric plexuses in a variable length of the gastrointestinal tract. Pedigrees and segregation analyses suggested the involvement of one or several dominant genes with low penetrance in HSCR. Considering that RE...

journal_title：Human molecular genetics

authors： Doray B,Salomon R,Amiel J,Pelet A,Touraine R,Billaud M,Attié T,Bachy B,Munnich A,Lyonnet S

更新日期：1998-09-01 00:00:00

abstract：:The severe reduction in mRNA and protein levels of the mitochondrial protein frataxin, encoded by the X25 gene, causes Friedreich ataxia (FRDA), the most common form of recessive hereditary ataxia. Increasing evidence underlines the pathogenetic role of oxidative stress in this disease. We generated an in vitro cellul...

journal_title：Human molecular genetics

authors： Pianese L,Busino L,De Biase I,De Cristofaro T,Lo Casale MS,Giuliano P,Monticelli A,Turano M,Criscuolo C,Filla A,Varrone S,Cocozza S

更新日期：2002-11-01 00:00:00

abstract：:Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. We have performed the first genome-wide cis-eQTL analysis of human hippocamp...

journal_title：Human molecular genetics

authors： Mirza N,Appleton R,Burn S,du Plessis D,Duncan R,Farah JO,Feenstra B,Hviid A,Josan V,Mohanraj R,Shukralla A,Sills GJ,Marson AG,Pirmohamed M

更新日期：2017-05-01 00:00:00

abstract：:Leukodystrophies are rare diseases caused by defects in the genes coding for lysosomal enzymes that degrade several glycosphingolipids. Gene therapy for leukodystrophies requires efficient distribution of the missing enzymes in CNS tissues to prevent demyelination and neurodegeneration. In this work, we targeted the e...

journal_title：Human molecular genetics

authors： Lattanzi A,Neri M,Maderna C,di Girolamo I,Martino S,Orlacchio A,Amendola M,Naldini L,Gritti A

更新日期：2010-06-01 00:00:00

abstract：:Angelman syndrome (AS) is a neurodevelopmental disorder caused due to deletions or loss-of-function mutations in maternally inherited UBE3A. Ube3a functions as an ubiquitin ligase as well as a transcriptional coactivator of steroid hormone receptors. However, the mechanisms by which maternal Ube3a deficiency gives ris...

journal_title：Human molecular genetics

authors： Godavarthi SK,Dey P,Maheshwari M,Jana NR

更新日期：2012-04-15 00:00:00

abstract：:Meiotic crossovers in the human genome cluster into highly localized hotspots identifiable indirectly from patterns of DNA diversity and directly by high-resolution sperm typing. Little is known about factors that control hotspot activity and the apparently rapid turnover of hotspots during recent evolution. Clues can...

journal_title：Human molecular genetics

authors： Neumann R,Jeffreys AJ

更新日期：2006-05-01 00:00:00