Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin.

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：:Genome-wide scans for linkage of chromosome regions to type 1 diabetes in affected sib pair families have revealed that the major susceptibility locus resides within the major histocompatibility complex (MHC) on chromosome 6p21 (lambda S = 2.4). It is recognized that the MHC contains multiple susceptibility loci (refe...

journal_title：Human molecular genetics

authors： Todd JA,Farrall M

更新日期：1996-01-01 00:00:00

abstract：:Identifying the causes of high fever syndromes such as Kawasaki disease (KD) remains challenging. To investigate pathogen exposure signatures in suspected pathogen-mediated diseases such as KD, we performed immunoglobulin (Ig) profiling using a next-generation sequencing method. After intravenous Ig (IVIG) treatment, ...

journal_title：Human molecular genetics

authors： Ko TM,Kiyotani K,Chang JS,Park JH,Yin Yew P,Chen YT,Wu JY,Nakamura Y

更新日期：2018-08-01 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：:The human POLG gene encodes the catalytic subunit of mitochondrial DNA polymerase gamma (pol gamma). Mutations in pol gamma are associated with a spectrum of disease phenotypes including autosomal dominant and recessive forms of progressive external ophthalmoplegia, spino-cerebellar ataxia and epilepsy, and Alpers-Hut...

journal_title：Human molecular genetics

authors： Baruffini E,Lodi T,Dallabona C,Puglisi A,Zeviani M,Ferrero I

更新日期：2006-10-01 00:00:00

abstract：:Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here we characterize a meaningful splicing model in which numerous Hemophilia B-causing mutations, either missense or at the donor splice site (5'ss) of coagulation...

journal_title：Human molecular genetics

authors： Balestra D,Barbon E,Scalet D,Cavallari N,Perrone D,Zanibellato S,Bernardi F,Pinotti M

更新日期：2015-09-01 00:00:00

abstract：:Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA repair pathway. To understand the role of this ...

journal_title：Human molecular genetics

authors： Andrade LN,Nathanson JL,Yeo GW,Menck CF,Muotri AR

更新日期：2012-09-01 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...

journal_title：Human molecular genetics

authors： Müller FB,Huber M,Kinaciyan T,Hausser I,Schaffrath C,Krieg T,Hohl D,Korge BP,Arin MJ

更新日期：2006-04-01 00:00:00

abstract：:Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecula...

journal_title：Human molecular genetics

authors： Peters DT,Musunuru K

更新日期：2012-10-15 00:00:00

abstract：:Autism is a heterogeneous condition that is likely to result from the combined effects of multiple genetic factors interacting with environmental factors. Given its complexity, the study of autism associated with Mendelian single gene disorders or known chromosomal etiologies provides an important perspective. We used...

journal_title：Human molecular genetics

authors： Nishimura Y,Martin CL,Vazquez-Lopez A,Spence SJ,Alvarez-Retuerto AI,Sigman M,Steindler C,Pellegrini S,Schanen NC,Warren ST,Geschwind DH

更新日期：2007-07-15 00:00:00

abstract：:Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...

journal_title：Human molecular genetics

authors： Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

更新日期：2014-05-01 00:00:00

abstract：:Gene transfer studies for the treatment of hemophilia began more than two decades ago. A large body of pre-clinical work evaluated a variety of vectors and target tissues, but by the start of the new millennium it became evident that adeno-associated viral (AAV)-mediated gene transfer to the liver held great promise a...

journal_title：Human molecular genetics

authors： High KA,Anguela XM

更新日期：2016-04-15 00:00:00

abstract：:Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously li...

journal_title：Human molecular genetics

authors： Knight MA,Hernandez D,Diede SJ,Dauwerse HG,Rafferty I,van de Leemput J,Forrest SM,Gardner RJ,Storey E,van Ommen GJ,Tapscott SJ,Fischbeck KH,Singleton AB

更新日期：2008-12-15 00:00:00

abstract：:Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes the light subunit of the y+LAT1 transporter. Treatments for the complications of LPI, including growth failure, renal disease, pulmonary...

journal_title：Human molecular genetics

authors： Stroup BM,Marom R,Li X,Hsu CW,Chang CY,Truong LD,Dawson B,Grafe I,Chen Y,Jiang MM,Lanza D,Green JR,Sun Q,Barrish JP,Ani S,Christiansen AE,Seavitt JR,Dickinson ME,Kheradmand F,Heaney JD,Lee B,Burrage LC

更新日期：2020-08-03 00:00:00

abstract：:Lysosomal neuraminidase is the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates and is deficient in two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis. Here we report the identification of eight novel mutations in the neuraminidase gene of 11 sialidosis patients with ...

journal_title：Human molecular genetics

authors： Bonten EJ,Arts WF,Beck M,Covanis A,Donati MA,Parini R,Zammarchi E,d'Azzo A

更新日期：2000-11-01 00:00:00

abstract：:Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) ...

journal_title：Human molecular genetics

authors： Michaud JL,Lachance M,Hamdan FF,Carmant L,Lortie A,Diadori P,Major P,Meijer IA,Lemyre E,Cossette P,Mefford HC,Rouleau GA,Rossignol E

更新日期：2014-09-15 00:00:00

abstract：:Schizophrenia is a severely debilitating psychiatric disease that is hypothesized to have its roots in neurodevelopment. Although the precise neuropathology underlying schizophrenia has remained elusive, there are consistent reports of abnormalities in several brain areas. Chief among these is the hippocampus, an area...

journal_title：Human molecular genetics

authors： Meyer KD,Morris JA

更新日期：2009-09-01 00:00:00

abstract：:Genomic data offer a goldmine of information for understanding the contribution of genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access ...

journal_title：Human molecular genetics

authors： Middleton A

更新日期：2018-05-01 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

authors： Faggioli F,Wang T,Vijg J,Montagna C

更新日期：2012-12-15 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：:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...

journal_title：Human molecular genetics

authors： Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet S

更新日期：2004-10-01 00:00:00

abstract：:Huntington's disease is neurodegenerative disorder caused by a polyglutamine expansion in the N-terminal region of the huntingtin protein (N17). Here, we analysed the relative contribution of each phosphorylatable residue in the N17 region (T3, S13 and S16) towards huntingtin exon 1 (HTTex1) oligomerization, aggregati...

journal_title：Human molecular genetics

authors： Branco-Santos J,Herrera F,Poças GM,Pires-Afonso Y,Giorgini F,Domingos PM,Outeiro TF

更新日期：2017-10-01 00:00:00

abstract：:Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two clo...

journal_title：Human molecular genetics

authors： Liu C,Bakeri H,Li T,Swaroop A

更新日期：2012-04-15 00:00:00

abstract：:Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage me...

journal_title：Human molecular genetics

authors： Hou L,Bergen SE,Akula N,Song J,Hultman CM,Landén M,Adli M,Alda M,Ardau R,Arias B,Aubry JM,Backlund L,Badner JA,Barrett TB,Bauer M,Baune BT,Bellivier F,Benabarre A,Bengesser S,Berrettini WH,Bhattacharjee AK,Biern

更新日期：2016-08-01 00:00:00

abstract：:In humans, the concerted action of at least 13 different peroxisomal PEX proteins is needed for proper peroxisome biogenesis. Mutations in any of these PEX genes can lead to lethal neurometabolic disorders of the Zellweger syndrome spectrum (ZSS). Previously, we identified the W313G mutation located within the SH3 dom...

journal_title：Human molecular genetics

authors： Krause C,Rosewich H,Woehler A,Gärtner J

更新日期：2013-10-01 00:00:00

abstract：:Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. In silico and functional studies using cell lines derived from this individu...

journal_title：Human molecular genetics

authors： Domingo D,Nawaz U,Corbett M,Espinoza JL,Tatton-Brown K,Coman D,Wilkinson MF,Gecz J,Jolly LA

更新日期：2020-08-29 00:00:00

abstract：:Alterations in mitochondrial DNA (mtDNA) and consequent loss of mitochondrial function underlie the mitochondrial theory of aging. In this study, we systematically analyzed the mtDNA control region somatic mutation pattern in 2864 single hematopoietic stem cells (HSCs) and progenitors, isolated by flow cytometry sorti...

journal_title：Human molecular genetics

authors： Yao YG,Ellison FM,McCoy JP,Chen J,Young NS

更新日期：2007-02-01 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：: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：:Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy and is caused by loss-of-function mutations in the BSCL2/seipin gene. Exactly how seipin may regulate adipogenesis remains unclear. A recent study in vitro suggested that seipin may function to inhibit the activity...

journal_title：Human molecular genetics

authors： Gao M,Liu L,Wang X,Mak HY,Liu G,Yang H

更新日期：2020-02-01 00:00:00