Abstract:
:Mutations in the gene encoding FERM domain-containing 7 protein (FRMD7) are recognized as an important cause of X-linked idiopathic infantile nystagmus (IIN). However, the precise role of FRMD7 and its involvement in the pathogenesis of IIN are not understood. In the present study, we have explored the role of FRMD7 in neuronal development. Using in situ hybridization and immunohistochemistry, we reveal that FRMD7 expression is spatially and temporally regulated in both the human and mouse brain during embryonic and fetal development. Furthermore, we show that FRMD7 expression is up-regulated upon retinoic acid (RA)-induced differentiation of mouse neuroblastoma NEURO2A cells, suggesting FRMD7 may play a role in this process. Indeed, we demonstrate, for the first time, that knockdown of FRMD7 during neuronal differentiation results in altered neurite development. Taken together, our data suggest that FRMD7 is involved in multiple aspects of neuronal development, and have direct importance to further understanding the pathogenesis of IIN.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Betts-Henderson J,Bartesaghi S,Crosier M,Lindsay S,Chen HL,Salomoni P,Gottlob I,Nicotera Pdoi
10.1093/hmg/ddp500subject
Has Abstractpub_date
2010-01-15 00:00:00pages
342-51issue
2eissn
0964-6906issn
1460-2083pii
ddp500journal_volume
19pub_type
杂志文章abstract::Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.3.381
更新日期:1997-03-01 00:00:00
abstract::Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/4.2.279
更新日期:1995-02-01 00:00:00
abstract::Plasmid pRSVL persisted and expressed luciferase for at least 19 months in mouse skeletal muscle after intramuscular injection. Other injected plasmids also stably expressed long-term suggesting that any plasmid DNA could stably persist and express in muscle. Plasmid DNA was demonstrated by quantitative PCR in some of...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/1.6.363
更新日期:1992-09-01 00:00:00
abstract::Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome. To enhance our understanding of the underlying mechanism of action, we have establ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.26.3083
更新日期:2001-12-15 00:00:00
abstract::Employing the mouse homologue of the human choroideremia cDNA as a probe, we have identified a homologous human gene. The consensus cDNA of this gene, designated human choroideremia-like (hCHML) gene, encompasses an open reading frame of 1968 base pairs. The deduced polypeptide of hCHML displays several regions of hom...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/1.2.71
更新日期:1992-05-01 00:00:00
abstract::Myelin sheath thickness is precisely regulated and essential for rapid propagation of action potentials along myelinated axons. In the peripheral nervous system, extrinsic signals from the axonal protein neuregulin 1 (NRG1) type III regulate Schwann cell fate and myelination. Here we ask if modulating NRG1 type III le...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy420
更新日期:2019-04-15 00:00:00
abstract::The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysp...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx421
更新日期:2018-02-01 00:00:00
abstract::Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt559
更新日期:2014-04-01 00:00:00
abstract::Chromogranins are pro-hormone secretory proteins released from neuroendocrine cells, with effects on control of blood pressure. We conducted a genome-wide association study for plasma catestatin, the catecholamine release inhibitory peptide derived from chromogranin A (CHGA), and other CHGA- or chromogranin B (CHGB)-r...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw380
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1093/hmg/ddr235
更新日期:2011-08-15 00:00:00
abstract::Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu522
更新日期:2015-02-15 00:00:00
abstract::Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31.1 and may account for 5-10% of adRP cases among Americans and Europeans. We identified two American families with the RP10...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.5.559
更新日期:2002-03-01 00:00:00
abstract::Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the foun...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/9.6.879
更新日期:2000-04-12 00:00:00
abstract::Presenilins 1 and 2 (PS1/2), causative molecules for familial Alzheimer's disease (FAD), are multipass transmembrane proteins localized predominantly in the endoplasmic reticulum (ER) and Golgi apparatus. Heteromeric protein complexes containing PS1/2 are thought to participate in several functions, including intramem...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi195
更新日期:2005-07-01 00:00:00
abstract::CUL4A and CUL4B are closely related cullin family members and can each assemble a Cullin-RING E3 ligase complex (CRL) and participate in a variety of biological processes. While the CRLs formed by the two cullin members may have common targets, the two appeared to have very different consequences when mutated or disru...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu503
更新日期:2015-02-01 00:00:00
abstract::Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotroph...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddh137
更新日期:2004-06-15 00:00:00
abstract::NPHP4 mutations cause nephronophthisis, an autosomal recessive cystic kidney disease associated with renal fibrosis and kidney failure. The NPHP4 gene product nephrocystin-4 interacts with other nephrocystins, cytoskeletal and ciliary proteins; however, the molecular and cellular functions of nephrocystin-4 have remai...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr214
更新日期:2011-08-15 00:00:00
abstract::Huntington's disease (HD) is caused by a pathological expansion of a CAG repeat in the first exon of the gene coding for huntingtin, resulting in an abnormally long polyglutamine stretch. Despite its widespread expression, mutant huntingtin leads to selective neuronal loss in the striatum and cortex. Here we report th...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.21.2547
更新日期:2002-10-01 00:00:00
abstract::Turner syndrome is a complex human disorder that generally associates a 45,X karyotype to a female phenotype presenting with gonadal dysgenesis, short stature and a number of characteristic somatic features. It has been hypothesized that this specific phenotype was the consequence of the haploinsufficiency of some X-l...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/4.9.1565
更新日期:1995-09-01 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
pub_type: 杂志文章
doi:10.1093/hmg/9.18.2609
更新日期:2000-11-01 00:00:00
abstract::Despite extensive progress in Huntington's disease (HD) research, very little is known about the association of epigenetic variation and HD pathogenesis in human brain tissues. Moreover, its contribution to the tissue-specific transcriptional regulation of the huntingtin gene (HTT), in which HTT expression levels are ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw076
更新日期:2016-05-15 00:00:00
abstract::Mutations of the thyroid hormone receptor α gene (THRA) cause hypothyroidism in patients with growth and developmental retardation, and skeletal dysplasia. Genetic evidence indicates that the dominant negative activity of TRα1 mutants underlies pathological manifestations. Using a mouse model of hypothyroidism caused ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt660
更新日期:2014-05-15 00:00:00
abstract::Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and l...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr385
更新日期:2011-12-01 00:00:00
abstract::Chromosomal aneuploidy, the gain or loss of whole chromosomes, is a hallmark of pathological conditions and a causal factor of birth defects and cancer. A number of studies indicate that aneuploid cells are present at a high frequency in the brain of mice and humans, suggesting that mosaic aneuploidies are compatible ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds375
更新日期:2012-12-15 00:00:00
abstract::Immunoglobulin-like domain containing receptor 1 (ILDR1) is a poorly characterized gene that was first identified in lymphoma cells. Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42. Patients with ILDR1 mutations cause bilateral non-progressive moderate-to-profound sen...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu340
更新日期:2014-12-01 00:00:00
abstract::Mutations in the DKC1 gene are responsible for causing the bone marrow failure syndrome, dyskeratosis congenita (DKC; OMIM 305000). The majority of mutations identified to date are missense mutations and are clustered in exons 3, 4 and 11. It is predicted that the corresponding protein dyskerin is a nucleolar phosphop...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/8.13.2515
更新日期:1999-12-01 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
pub_type: 杂志文章
doi:
更新日期:2003-03-15 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
pub_type: 杂志文章
doi:10.1093/hmg/ddv617
更新日期:2016-03-01 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
pub_type: 杂志文章
doi:10.1093/hmg/5.7.1017
更新日期:1996-07-01 00:00:00
abstract::In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.2.309
更新日期:1994-02-01 00:00:00