The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease.

abstract：:Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/ca...

journal_title：Human molecular genetics

authors： Feng L,Seymour AB,Jiang S,To A,Peden AA,Novak EK,Zhen L,Rusiniak ME,Eicher EM,Robinson MS,Gorin MB,Swank RT

更新日期：1999-02-01 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：:Integrating single-cell RNA sequencing (scRNA-seq) data with genotypes obtained from DNA sequencing studies facilitates the detection of functional genetic variants underlying cell type-specific gene expression variation. Unfortunately, most existing scRNA-seq studies do not come with DNA sequencing data; thus, being ...

journal_title：Human molecular genetics

authors： Schnepp PM,Chen M,Keller ET,Zhou X

更新日期：2019-11-01 00:00:00

abstract：:The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour suppression and the blockade of phosphoinositide-3-kinase signalling is important for its growth suppressive effects, althou...

journal_title：Human molecular genetics

authors： Weng LP,Smith WM,Brown JL,Eng C

更新日期：2001-03-15 00:00:00

abstract：:We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.(Pro133Leu), in the SLC35D1 gene encoding a nucleotide...

journal_title：Human molecular genetics

authors： Rautengarten C,Quarrell OW,Stals K,Caswell RC,De Franco E,Baple E,Burgess N,Jokhi R,Heazlewood JL,Offiah AC,Ebert B,Ellard S

更新日期：2019-11-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are the two common neurodegenerative diseases that have been associated with the GGGGCC·GGCCCC repeat RNA expansion in a noncoding region of C9orf72. It has been previously reported that unconventional repeat-associated non-ATG (RAN) translation of ...

journal_title：Human molecular genetics

authors： Tao Z,Wang H,Xia Q,Li K,Li K,Jiang X,Xu G,Wang G,Ying Z

更新日期：2015-05-01 00:00:00

abstract：:Splicing regulation is an important step of post-transcriptional gene regulation. It is a highly dynamic process orchestrated by RNA-binding proteins (RBPs). RBP dysfunction and global splicing dysregulation have been implicated in many human diseases, but the in vivo functions of most RBPs and the splicing outcome up...

journal_title：Human molecular genetics

authors： Tan Q,Yalamanchili HK,Park J,De Maio A,Lu HC,Wan YW,White JJ,Bondar VV,Sayegh LS,Liu X,Gao Y,Sillitoe RV,Orr HT,Liu Z,Zoghbi HY

更新日期：2016-12-01 00:00:00

abstract：:Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...

journal_title：Human molecular genetics

authors： Sassone J,Taiana M,Lombardi R,Porretta-Serapiglia C,Freschi M,Bonanno S,Marcuzzo S,Caravello F,Bendotti C,Lauria G

更新日期：2016-04-15 00:00:00

abstract：:The brain-specific miR-379/miR-410 gene cluster at the imprinted Dlk1-Dio3 domain is implicated in several aspects of brain development and function, particularly in fine-tuning the dendritic outgrowth and spine remodelling of hippocampal neurons. Whether it might influence behaviour and memory-related processes has n...

journal_title：Human molecular genetics

authors： Marty V,Labialle S,Bortolin-Cavaillé ML,Ferreira De Medeiros G,Moisan MP,Florian C,Cavaillé J

更新日期：2016-02-15 00:00:00

abstract：:Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated with PRPF31 expression, as lymphoblastoid cell lines (LCLs)...

journal_title：Human molecular genetics

authors： Rio Frio T,Civic N,Ransijn A,Beckmann JS,Rivolta C

更新日期：2008-10-15 00:00:00

abstract：:Homozygous inv mice lack a functional inversin protein and exhibit situs inversus plus severe cystic changes in the kidney and pancreas. Although the inversin sequence has provided few clues to its function, we and others have previously identified calmodulin as a binding partner. We now provide evidence that inversin...

journal_title：Human molecular genetics

authors： Morgan D,Eley L,Sayer J,Strachan T,Yates LM,Craighead AS,Goodship JA

更新日期：2002-12-15 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：:The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q3...

journal_title：Human molecular genetics

authors： Lehmann-Horn F,Mailänder V,Heine R,George AL

更新日期：1995-08-01 00:00:00

abstract：:FOXP transcription factors play important roles in neurodevelopment, but little is known about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate gene expression by forming homo- and hetero-dimers with each other. Physical associations with other transcription factors might also modu...

journal_title：Human molecular genetics

authors： Estruch SB,Graham SA,Quevedo M,Vino A,Dekkers DHW,Deriziotis P,Sollis E,Demmers J,Poot RA,Fisher SE

更新日期：2018-04-01 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：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

journal_title：Human molecular genetics

authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

更新日期：2010-10-15 00:00:00

abstract：:Angelman syndrome, Prader-Will syndrome and Dup15q syndrome map to a cluster of imprinted genes located at 15q11-q13. Imprinting at this domain is regulated by an imprinting control region consisting of two distinct elements, the Angelman syndrome imprinting center (AS-IC) and the Prader-Willi syndrome imprinting cent...

journal_title：Human molecular genetics

authors： Lewis MW,Vargas-Franco D,Morse DA,Resnick JL

更新日期：2019-01-15 00:00:00

abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

journal_title：Human molecular genetics

authors： Berwick DC,Harvey K

更新日期：2012-11-15 00:00:00

abstract：:Aberrant tau protein accumulation drives neurofibrillary tangle (NFT) formation in several neurodegenerative diseases. Currently, efforts to elucidate pathogenic mechanisms and assess the efficacy of therapeutic targets are limited by constraints of existing models of tauopathy. In order to generate a more versatile m...

journal_title：Human molecular genetics

authors： Cook C,Kang SS,Carlomagno Y,Lin WL,Yue M,Kurti A,Shinohara M,Jansen-West K,Perkerson E,Castanedes-Casey M,Rousseau L,Phillips V,Bu G,Dickson DW,Petrucelli L,Fryer JD

更新日期：2015-11-01 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：:We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of patients with the Hunter syndrome. Analysis of the resulting rear...

journal_title：Human molecular genetics

authors： Bondeson ML,Dahl N,Malmgren H,Kleijer WJ,Tönnesen T,Carlberg BM,Pettersson U

更新日期：1995-04-01 00:00:00

abstract：:Cone photoreceptors (cones) are essential for high-resolution daylight vision and colour perception. Loss of cones in hereditary retinal diseases has a dramatic impact on human vision. The mechanisms underlying cone death are poorly understood, and consequently, there are no treatments available. Previous studies sugg...

journal_title：Human molecular genetics

authors： Kulkarni M,Trifunović D,Schubert T,Euler T,Paquet-Durand F

更新日期：2016-09-01 00:00:00

abstract：:Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two het...

journal_title：Human molecular genetics

authors： Wu JH,Liu JH,Ko YC,Wang CT,Chung YC,Chu KC,Liu TT,Chao HM,Jiang YJ,Chen SJ,Chung MY

更新日期：2016-04-15 00:00:00

abstract：:Intronic expansion of a hexanucleotide GGGGCC repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. However, the cellular function of the C9ORF72 protein remains unknown. Here, we demonstrate that C9ORF72 regulate...

journal_title：Human molecular genetics

authors： Farg MA,Sundaramoorthy V,Sultana JM,Yang S,Atkinson RA,Levina V,Halloran MA,Gleeson PA,Blair IP,Soo KY,King AE,Atkin JD

更新日期：2014-07-01 00:00:00

abstract：:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manne...

journal_title：Human molecular genetics

authors： Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KI

更新日期：2003-03-15 00:00:00

abstract：:A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth disease type 1A (CMT1A). An independent origin for the mutation in each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatid exch...

journal_title：Human molecular genetics

authors： Palau F,Löfgren A,De Jonghe P,Bort S,Nelis E,Sevilla T,Martin JJ,Vilchez J,Prieto F,Van Broeckhoven C

更新日期：1993-12-01 00:00:00

abstract：:Human leukocyte antigen (HLA)-E is a non-classical major histocompatibility complex class I (Ib) molecule, which plays an important role in immunosuppression. In this study, we investigated the immunomodulating effect of HLA-E in a xenogeneic system, using human placental artery-derived endothelial (hPAE) cells expres...

journal_title：Human molecular genetics

authors： Cui CH,Miyoshi S,Tsuji H,Makino H,Kanzaki S,Kami D,Terai M,Suzuki H,Umezawa A

更新日期：2011-01-15 00:00:00

abstract：:The molecular mechanisms regulating expression of utrophin A are of therapeutic interest since upregulating its expression at the sarcolemma can compensate for the lack of dystrophin in animal models of Duchenne Muscular Dystrophy (DMD). The 5'-UTR of utrophin A has been previously shown to drive cap-independent inter...

journal_title：Human molecular genetics

authors： Miura P,Coriati A,Bélanger G,De Repentigny Y,Lee J,Kothary R,Holcik M,Jasmin BJ

更新日期：2010-04-01 00:00:00

abstract：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

journal_title：Human molecular genetics

authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

更新日期：2006-02-15 00:00:00

abstract：:We recently reported increased mitochondrial fission and decreased fusion, increased amyloid beta (Aβ) interaction with the mitochondrial fission protein Drp1, increased mitochondrial fragmentation, impaired axonal transport of mitochondria and synaptic degeneration in neurons affected by AD. In the present study, we ...

journal_title：Human molecular genetics

authors： Manczak M,Reddy PH

更新日期：2012-06-01 00:00:00