A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.

abstract：:Gene amplification plays a critical role in tumor progression. Hence, understanding the factors triggering this process in human cancers is an important concern. Unfortunately, the structures formed at early stages are usually unavailable for study, hampering the identification of the initiating events in tumors. Here...

journal_title：Human molecular genetics

authors： Ciullo M,Debily MA,Rozier L,Autiero M,Billault A,Mayau V,El Marhomy S,Guardiola J,Bernheim A,Coullin P,Piatier-Tonneau D,Debatisse M

更新日期：2002-11-01 00:00:00

abstract：:Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients...

journal_title：Human molecular genetics

authors： Matsumoto N,Kobayashi N,Uda N,Hirota M,Kawasaki H

更新日期：2018-03-15 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：:Alternative splicing emerges as one of the most important mechanisms to generate transcript diversity. It is regulated by the formation of protein complexes on pre-mRNA. We demonstrate that protein phosphatase 1 (PP1) binds to the splicing factor transformer2-beta1 (tra2-beta1) via a phylogenetically conserved RVDF se...

journal_title：Human molecular genetics

authors： Novoyatleva T,Heinrich B,Tang Y,Benderska N,Butchbach ME,Lorson CL,Lorson MA,Ben-Dov C,Fehlbaum P,Bracco L,Burghes AH,Bollen M,Stamm S

更新日期：2008-01-01 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：: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

authors： Barbaux S,Vilain E,Raoul O,Gilgenkrantz S,Jeandidier E,Chadenas D,Souleyreau N,Fellous M,McElreavey K

更新日期：1995-09-01 00:00:00

abstract：:Rod and cone photoreceptors in mammalian retina are generated from common pool(s) of neuroepithelial progenitors. NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor differentiation. Mutations in NR2E3, a rod-specific orphan nuclear receptor, lead to loss of rods, increased density of S-co...

journal_title：Human molecular genetics

authors： Cheng H,Aleman TS,Cideciyan AV,Khanna R,Jacobson SG,Swaroop A

更新日期：2006-09-01 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：:X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state telomerase RNA (TER) levels and sh...

journal_title：Human molecular genetics

authors： Zeng XL,Thumati NR,Fleisig HB,Hukezalie KR,Savage SA,Giri N,Alter BP,Wong JM

更新日期：2012-02-15 00:00:00

abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

journal_title：Human molecular genetics

authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

更新日期：2006-07-01 00:00:00

abstract：:Current evidence indicates that excess brain cholesterol regulates amyloid-β (Aβ) deposition, which in turn can regulate cholesterol homeostasis. Moreover, Aβ neurotoxicity is potentiated, in part, by mitochondrial glutathione (mGSH) depletion. To better understand the relationship between alterations in cholesterol h...

journal_title：Human molecular genetics

authors： Barbero-Camps E,Fernández A,Martínez L,Fernández-Checa JC,Colell A

更新日期：2013-09-01 00:00:00

abstract：:The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retardation. Mutations in the gene for Delta(7)-dehydrocholesterol reductase (Delta(7)-re...

journal_title：Human molecular genetics

authors： Yu H,Lee MH,Starck L,Elias ER,Irons M,Salen G,Patel SB,Tint GS

更新日期：2000-05-22 00:00:00

abstract：:We describe a method for rapid identification of chromosomes at metaphase, and quantification of chromosomes in interphase, by annealing oligonucleotide primers, derived from chromosome-specific subsets of repeated DNA families, to the DNA of cytological preparations, and enzymatic extension with the incorporation of ...

journal_title：Human molecular genetics

authors： Gosden J,Lawson D

更新日期：1994-06-01 00:00:00

abstract：:DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining (NHEJ), a well-orchestrated, multistep process involving numerous proteins essential for cell viability, represents one major pathway to repair DSBs in mammalian c...

journal_title：Human molecular genetics

authors： Rosin N,Elcioglu NH,Beleggia F,Isgüven P,Altmüller J,Thiele H,Steindl K,Joset P,Rauch A,Nürnberg P,Wollnik B,Yigit G

更新日期：2015-07-01 00:00:00

abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

journal_title：Human molecular genetics

authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

更新日期：2011-02-01 00:00:00

abstract：:First- and second-generation sequencing technologies have led the way in revolutionizing the field of genomics and beyond, motivating an astonishing number of scientific advances, including enabling a more complete understanding of whole genome sequences and the information encoded therein, a more complete characteriz...

journal_title：Human molecular genetics

authors： Schadt EE,Turner S,Kasarskis A

更新日期：2010-10-15 00:00:00

abstract：:What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

journal_title：Human molecular genetics

authors： Kalatzis V,Petit C

更新日期：1998-01-01 00:00:00

abstract：:BRCA1 and BRCA2 germline mutations account for <5% of breast cancer cases. Less penetrant breast cancer susceptibility genes are likely to exist. Earlier studies have suggested involvement of the HLA region. The HLA region was genotyped with 24 microsatellite markers and markers for two single nucleotide polymorphisms...

journal_title：Human molecular genetics

authors： de Jong MM,Nolte IM,de Vries EG,Schaapveld M,Kleibeuker JH,Oosterom E,Oosterwijk JC,van der Hout AH,van der Steege G,Bruinenberg M,Boezen HM,Te Meerman GJ,van der Graaf WT

更新日期：2003-09-15 00:00:00

abstract：:Fragile X Syndrome (FXS) is a learning disability seen in individuals who have >200 CGG•CCG repeats in the 5' untranslated region of the X-linked FMR1 gene. Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress...

journal_title：Human molecular genetics

authors： Yudkin D,Hayward BE,Aladjem MI,Kumari D,Usdin K

更新日期：2014-06-01 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：:The positions of DNA replication initiation regions (IRs) at three human trinucleotide repeat (TNR) disease loci were examined in order to characterize the role played by IRs in explaining the known locus-specific variation in TNR instability levels. Using three different normal cell lines, candidate IRs were identifi...

journal_title：Human molecular genetics

authors： Nenguke T,Aladjem MI,Gusella JF,Wexler NS,Arnheim N,Venezuela HD Project.

更新日期：2003-05-01 00:00:00

abstract：:The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare ne...

journal_title：Human molecular genetics

authors： Hemberger M,Himmelbauer H,Neumann HP,Plate KH,Schwarzkopf G,Fundele R

更新日期：1999-02-01 00:00:00

abstract：:Recent studies in mice have clearly demonstrated that eliminating Apo E alters the rate, character and distribution of A beta deposits. In the present study, we asked whether elevating the levels of Apo E can, in a dominant fashion, influence amyloid deposition. We expressed human (Hu) Apo E4 via the mouse prion prote...

journal_title：Human molecular genetics

authors： Lesuisse C,Xu G,Anderson J,Wong M,Jankowsky J,Holtz G,Gonzalez V,Wong PC,Price DL,Tang F,Wagner S,Borchelt DR

更新日期：2001-10-15 00:00:00

abstract：:The genes of the piwi family are defined by conserved PAZ and Piwi domains and play important roles in stem-cell self-renewal, RNA silencing and translational regulation in various organisms. Both, mouse and human Piwil2 genes, members of the piwi gene family, are specifically expressed in testis. We report here enhan...

journal_title：Human molecular genetics

authors： Lee JH,Schütte D,Wulf G,Füzesi L,Radzun HJ,Schweyer S,Engel W,Nayernia K

更新日期：2006-01-15 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：:To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. ...

journal_title：Human molecular genetics

authors： Vainzof M,Passos-Bueno MR,Canovas M,Moreira ES,Pavanello RC,Marie SK,Anderson LV,Bonnemann CG,McNally EM,Nigro V,Kunkel LM,Zatz M

更新日期：1996-12-01 00:00:00

abstract：:Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...

journal_title：Human molecular genetics

authors： Schaefer AS,Richter GM,Nothnagel M,Manke T,Dommisch H,Jacobs G,Arlt A,Rosenstiel P,Noack B,Groessner-Schreiber B,Jepsen S,Loos BG,Schreiber S

更新日期：2010-02-01 00:00:00

abstract：:The human genomic instability syndrome ataxia telangiectasia (A-T), caused by mutations in the gene encoding the DNA damage checkpoint kinase ATM, is characterized by multisystem defects including neurodegeneration, immunodeficiency and increased cancer predisposition. ATM is central to a pathway that responds to doub...

journal_title：Human molecular genetics

authors： Balmus G,Zhu M,Mukherjee S,Lyndaker AM,Hume KR,Lee J,Riccio ML,Reeves AP,Sutter NB,Noden DM,Peters RM,Weiss RS

更新日期：2012-08-01 00:00:00

abstract：:Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3...

journal_title：Human molecular genetics

authors： Seto JT,Lek M,Quinlan KG,Houweling PJ,Zheng XF,Garton F,MacArthur DG,Raftery JM,Garvey SM,Hauser MA,Yang N,Head SI,North KN

更新日期：2011-08-01 00:00:00

abstract：:ABP-280 is a ubiquitous actin binding protein present in the cytoskeleton of many different cell types. ABP-280 was mapped to distal Xq28, 50-60 kb downstream of the Green Colour Pigment (GCP) genes. To establish if ABP-280 may be a candidate for one of the muscle disease localized by linkage analysis to distal Xq28 w...

journal_title：Human molecular genetics

authors： Maestrini E,Patrosso C,Mancini M,Rivella S,Rocchi M,Repetto M,Villa A,Frattini A,Zoppè M,Vezzoni P

更新日期：1993-06-01 00:00:00