Chromosome-specific accumulation of aneuploidy in the aging mouse brain.

abstract：:The sensitivity of single-strand conformation polymorphism (SSCP) analysis for the detection of mutations in the porphobilinogen deaminase (PBGD) gene among Finnish patients with acute intermittent porphyria (AIP) was studied. 13 novel mutations including one de novo event, and six previously characterized mutations w...

journal_title：Human molecular genetics

authors： Kauppinen R,Mustajoki S,Pihlaja H,Peltonen L,Mustajoki P

更新日期：1995-02-01 00:00:00

abstract：:Expression of misfolded protein in cultured cells frequently leads to the formation of juxtanuclear inclusions that have been termed 'aggresomes'. Aggresome formation is an active cellular response that involves trafficking of the offending protein along microtubules, reorganization of intermediate filaments and recru...

journal_title：Human molecular genetics

authors： Taylor JP,Tanaka F,Robitschek J,Sandoval CM,Taye A,Markovic-Plese S,Fischbeck KH

更新日期：2003-04-01 00:00:00

abstract：:IGF2 loss of imprinting (LOI) is fairly prevalent and implicated in the pathogenesis of human cancer and developmental disease; however, the causes of this phenomenon are largely unknown. We determined whether the post-weaning diet of mice affects allelic expression and CpG methylation of Igf2. C57BL/6JxCast/EiJ F1 hy...

journal_title：Human molecular genetics

authors： Waterland RA,Lin JR,Smith CA,Jirtle RL

更新日期：2006-03-01 00:00:00

abstract：:The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is...

journal_title：Human molecular genetics

authors： Robinson DO,Jacobs PA

更新日期：1999-11-01 00:00:00

abstract：:In human type 1 diabetes (T1D) and in its murine model, the major histocompatibility complex (MHC) class II molecules, human leukocyte antigens (HLA)-DQ and -DR and their murine orthologues, IA and IE, are the major genetic determinants. In this report, we have ranked HLA class II molecule-associated T1D risk in a two...

journal_title：Human molecular genetics

authors： Cucca F,Lampis R,Congia M,Angius E,Nutland S,Bain SC,Barnett AH,Todd JA

更新日期：2001-09-15 00:00:00

abstract：:Ciliopathies form a group of inherited disorders sharing several clinical manifestations because of abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important ...

journal_title：Human molecular genetics

authors： Li J,Lu D,Liu H,Williams BO,Overbeek PA,Lee B,Zheng L,Yang T

更新日期：2017-08-01 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：:Patients with ataxia-telangiectasia (A-T) lack a functional ATM kinase protein and exhibit defective repair of DNA double-stranded breaks and response to oxidative stress. We show that CRISPR/Cas9-assisted gene correction combined with piggyBac (PB) transposon-mediated excision of the selection cassette enables seamle...

journal_title：Human molecular genetics

authors： Ovchinnikov DA,Withey SL,Leeson HC,Lei UW,Sundarrajan A,Junday K,Pewarchuk M,Yeo AJ,Kijas AW,Lavin MF,Wolvetang EJ

更新日期：2020-04-15 00:00:00

abstract：:Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they may also contribute joint eff...

journal_title：Human molecular genetics

authors： Roudnitzky N,Bufe B,Thalmann S,Kuhn C,Gunn HC,Xing C,Crider BP,Behrens M,Meyerhof W,Wooding SP

更新日期：2011-09-01 00:00:00

abstract：:Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotid...

journal_title：Human molecular genetics

authors： Dols-Icardo O,García-Redondo A,Rojas-García R,Sánchez-Valle R,Noguera A,Gómez-Tortosa E,Pastor P,Hernández I,Esteban-Pérez J,Suárez-Calvet M,Antón-Aguirre S,Amer G,Ortega-Cubero S,Blesa R,Fortea J,Alcolea D,Capdevila A,

更新日期：2014-02-01 00:00:00

abstract：:Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia. They join the most common cholesterol biosyn...

journal_title：Human molecular genetics

authors： Herman GE

更新日期：2003-04-01 00:00:00

abstract：:KDM6B/JMJD3 is a histone H3 lysine demethylase with an important gene regulatory role in development and physiology. Here, we show that human JMJD3 expression is induced by the active vitamin D metabolite 1α,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)) and that JMJD3 modulates the gene regulatory action of this hormone....

journal_title：Human molecular genetics

authors： Pereira F,Barbáchano A,Silva J,Bonilla F,Campbell MJ,Muñoz A,Larriba MJ

更新日期：2011-12-01 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：:To identify genes that affect body mass index (BMI) in American Indians who are predominately of Pima Indian heritage, we previously completed a genome-wide association study in 1120 American Indians. That study also included follow-up genotyping for 9 SNPs in 2133 additional subjects. A comprehensive follow-up study ...

journal_title：Human molecular genetics

authors： Bian L,Traurig M,Hanson RL,Marinelarena A,Kobes S,Muller YL,Malhotra A,Huang K,Perez J,Gale A,Knowler WC,Bogardus C,Baier LJ

更新日期：2013-11-01 00:00:00

abstract：:Pathological modifications in the microtubule-associated protein Tau is a common characteristic observed in different neurological diseases, suggesting that analogous metabolic pathways might be similarly affected during neurodegeneration. To identify these molecules and mechanisms, we utilized Drosophila models of hu...

journal_title：Human molecular genetics

authors： Appocher C,Klima R,Feiguin F

更新日期：2014-12-20 00:00:00

abstract：:Mutations in the NF1 tumor suppressor gene cause Neurofibromatosis type 1 (NF1). Neurofibromin, the protein product of NF1, functions as a negative regulator of Ras activity. Some NF1 patients develop cardiovascular disease, which represents an underrecognized disease complication and contributes to excess morbidity a...

journal_title：Human molecular genetics

authors： Stansfield BK,Bessler WK,Mali R,Mund JA,Downing B,Li F,Sarchet KN,DiStasi MR,Conway SJ,Kapur R,Ingram DA Jr

更新日期：2013-03-01 00:00:00

abstract：:Xq28 has been of special interest in human genetics because a large number of diseases map to this region. As a step in the molecular analysis of the as yet uncloned disease genes, and as a test for the detailed analysis of larger regions of the genome, we have constructed YAC clone contigs covering the 7.5 Mb region ...

journal_title：Human molecular genetics

authors： Rogner UC,Kioschis P,Wilke K,Gong W,Pick E,Dietrich A,Zechner U,Hameister H,Pragliola A,Herman GE

更新日期：1994-12-01 00:00:00

abstract：:Twist1 is a basic helix-loop-helix transcription factor, essential during early development in mammals. While Twist1 induces epithelial-to-mesenchymal transition (EMT), here we show that Twist1 overexpression enhances nuclear and mitotic aberrations. This is accompanied by an increase in whole chromosomal copy number ...

journal_title：Human molecular genetics

authors： Khot M,Sreekumar D,Jahagirdar S,Kulkarni A,Hari K,Faseela EE,Sabarinathan R,Jolly MK,Sengupta K

更新日期：2020-06-27 00:00:00

abstract：:The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chro...

journal_title：Human molecular genetics

authors： Koumbaris G,Hatzisevastou-Loukidou H,Alexandrou A,Ioannides M,Christodoulou C,Fitzgerald T,Rajan D,Clayton S,Kitsiou-Tzeli S,Vermeesch JR,Skordis N,Antoniou P,Kurg A,Georgiou I,Carter NP,Patsalis PC

更新日期：2011-05-15 00:00:00

abstract：:Primary open-angle glaucoma (POAG) is a complex disorder characterized by a progressive and treatable degeneration of the optic nerve. TIGR/myocilin (MYOC) gene mutations are found in approximately 4% of all POAG patients. Populations with frequent founder effects, such as the French-Canadians, offer unique advantages...

journal_title：Human molecular genetics

authors： Faucher M,Anctil JL,Rodrigue MA,Duchesne A,Bergeron D,Blondeau P,Côté G,Dubois S,Bergeron J,Arseneault R,Morissette J,Raymond V,Québec Glaucoma Network.

更新日期：2002-09-01 00:00:00

abstract：:Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with ...

journal_title：Human molecular genetics

authors： Twigg SR,Babbs C,van den Elzen ME,Goriely A,Taylor S,McGowan SJ,Giannoulatou E,Lonie L,Ragoussis J,Sadighi Akha E,Knight SJ,Zechi-Ceide RM,Hoogeboom JA,Pober BR,Toriello HV,Wall SA,Rita Passos-Bueno M,Brunner HG,Mathi

更新日期：2013-04-15 00:00:00

abstract：:The RIG-I-like receptors (RLRs)--RIG-I, IFIH1 (or MDA5) and LGP2--are thought to be key actors in the innate immune system, as they play a major role in sensing RNA viruses in the cytosol of host cells. Despite the increasingly recognized importance of the RLR family in antiviral immunity, no population genetic studie...

journal_title：Human molecular genetics

authors： Vasseur E,Patin E,Laval G,Pajon S,Fornarino S,Crouau-Roy B,Quintana-Murci L

更新日期：2011-11-15 00:00:00

abstract：:Uterine leiomyomata (UL), also known as fibroids, are the most common pelvic tumors in women of reproductive age and are the primary indication for hysterectomy in the USA. Many lines of evidence indicate a strong genetic component to the development of these tumors. In fact, approximately 40% of UL have non-random, t...

journal_title：Human molecular genetics

authors： Hodge JC,Morton CC

更新日期：2007-04-15 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

abstract：:GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal pentraxins 1 and 2, and the neuronal pentraxin recepto...

journal_title：Human molecular genetics

authors： Hooper AWM,Alamilla JF,Venier RE,Gillespie DC,Igdoura SA

更新日期：2017-02-15 00:00:00

abstract：:We, amongst others, have shown that CC homozygosity at the -22C>T promoter polymorphism in presenilin 1 (PSEN1) is associated with increased risk for Alzheimer's disease (AD). Also, studies in AD brains suggested that CC homozygosity increased the risk for AD by increasing the Abeta load. We characterized the PSEN1 pr...

journal_title：Human molecular genetics

authors： Theuns J,Remacle J,Killick R,Corsmit E,Vennekens K,Huylebroeck D,Cruts M,Van Broeckhoven C

更新日期：2003-04-15 00:00:00

abstract：:We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter ...

journal_title：Human molecular genetics

authors： Bugge M,Collins A,Hertz JM,Eiberg H,Lundsteen C,Brandt CA,Bak M,Hansen C,Delozier CD,Lespinasse J,Tranebjaerg L,Hahnemann JM,Rasmussen K,Bruun-Petersen G,Duprez L,Tommerup N,Petersen MB

更新日期：2007-08-15 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：:Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring...

journal_title：Human molecular genetics

authors： Raimondo A,Chakera AJ,Thomsen SK,Colclough K,Barrett A,De Franco E,Chatelas A,Demirbilek H,Akcay T,Alawneh H,International NDM Consortium.,Flanagan SE,Van De Bunt M,Hattersley AT,Gloyn AL,Ellard S,International NDM Consor

更新日期：2014-12-15 00:00:00

abstract：:Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified fro...

journal_title：Human molecular genetics

authors： Li N,Rosenblatt DS,Kamen BA,Seetharam S,Seetharam B

更新日期：1994-10-01 00:00:00