Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytes.

abstract：:It is now well established that the genomic landscape of DNA methylation (DNAm) gets altered as a function of age, a process we here call 'epigenetic drift'. The biological, functional, clinical and evolutionary significance of this epigenetic drift, however, remains unclear. We here provide a brief review of epigenet...

journal_title：Human molecular genetics

authors： Teschendorff AE,West J,Beck S

更新日期：2013-10-15 00:00:00

abstract：:Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mic...

journal_title：Human molecular genetics

authors： Barbosa MD,Barrat FJ,Tchernev VT,Nguyen QA,Mishra VS,Colman SD,Pastural E,Dufourcq-Lagelouse R,Fischer A,Holcombe RF,Wallace MR,Brandt SJ,de Saint Basile G,Kingsmore SF

更新日期：1997-07-01 00:00:00

abstract：:The role of renin binding protein (RnBP) in human (patho)physiology, despite its biochemical characterization, is as yet unclear. RnBP has been shown to bind and inactivate renin, a key player of the blood pressure regulating renin-angiotensin system. This renders the RnBP gene a promising candidate gene in human hype...

journal_title：Human molecular genetics

authors： Knöll A,Schunkert H,Reichwald K,Danser AH,Bauer D,Platzer M,Stein G,Rosenthal A

更新日期：1997-09-01 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the inheritance of both homologs of a given genomic region from only one parent. The majority of UPD includes an entire chromosome. However, the extent of UPD is sometimes limited to a subchromosomal region (segmental UPD). Mosaic paternal UPD (pUPD) of chromosome 11 is found in ...

journal_title：Human molecular genetics

authors： Ohtsuka Y,Higashimoto K,Oka T,Yatsuki H,Jozaki K,Maeda T,Kawahara K,Hamasaki Y,Matsuo M,Nishioka K,Joh K,Mukai T,Soejima H

更新日期：2016-04-01 00:00:00

abstract：:Huntingtin interacting protein 14 (HIP14, ZDHHC17) is a huntingtin (HTT) interacting protein with palmitoyl transferase activity. In order to interrogate the function of Hip14, we generated mice with disruption in their Hip14 gene. Hip14-/- mice displayed behavioral, biochemical and neuropathological defects that are ...

journal_title：Human molecular genetics

authors： Singaraja RR,Huang K,Sanders SS,Milnerwood AJ,Hines R,Lerch JP,Franciosi S,Drisdel RC,Vaid K,Young FB,Doty C,Wan J,Bissada N,Henkelman RM,Green WN,Davis NG,Raymond LA,Hayden MR

更新日期：2011-10-15 00:00:00

abstract：:We have established a Drosophila model of Gerstmann-Sträussler-Scheinker (GSS) syndrome by expressing mouse prion protein (PrP) having leucine substitution at residue 101 (MoPrP(P101L)). Flies expressing MoPrP(P101L), but not wild-type MoPrP (MoPrP(3F4)), showed severe defects in climbing ability and early death. Expr...

journal_title：Human molecular genetics

authors： Choi JK,Jeon YC,Lee DW,Oh JM,Lee HP,Jeong BH,Carp RI,Koh YH,Kim YS

更新日期：2010-11-15 00:00:00

abstract：:We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...

journal_title：Human molecular genetics

authors： Holt IJ,Dunbar DR,Jacobs HT

更新日期：1997-08-01 00:00:00

abstract：:To further identify novel susceptibility loci of nasopharyngeal carcinoma (NPC), we here extended our previous genome-wide association study (GWAS) by boosting statistical power with larger sample size and validating more SNPs in the ranking list based on the GWAS P-values. The discovery stage consisting of 463,250 SN...

journal_title：Human molecular genetics

authors： Cui Q,Feng QS,Mo HY,Sun J,Xia YF,Zhang H,Foo JN,Guo YM,Chen LZ,Li M,Liu WS,Xu M,Zhou G,He F,Yu X,Jia WH,Liu J,Zeng YX,Bei JX

更新日期：2016-08-15 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：:TMEM70, a 21-kDa protein localized in the inner mitochondrial membrane, has been shown to facilitate the biogenesis of mammalian F1Fo ATP synthase. Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficiency resulting in a severe mitochondrial disease presenting as neonatal encep...

journal_title：Human molecular genetics

authors： Vrbacký M,Kovalčíková J,Chawengsaksophak K,Beck IM,Mráček T,Nůsková H,Sedmera D,Papoušek F,Kolář F,Sobol M,Hozák P,Sedlacek R,Houštěk J

更新日期：2016-11-01 00:00:00

abstract：:Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was ...

journal_title：Human molecular genetics

authors： Schneider JA,Peto TE,Boone RA,Boyce AJ,Clegg JB

更新日期：2002-02-01 00:00:00

abstract：:The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the ide...

journal_title：Human molecular genetics

authors： Urao N,Mirza RE,Corbiere TF,Hollander Z,Borchers CH,Koh TJ

更新日期：2017-12-15 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：: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：:Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine...

journal_title：Human molecular genetics

authors： Whiting EJ,Waring JD,Tamai K,Somerville MJ,Hincke M,Staines WA,Ikeda JE,Korneluk RG

更新日期：1995-06-01 00:00:00

abstract：:Huntington's disease (HD) is an inherited neurodegenerative disorder caused by the expansion of a CAG repeat in a gene coding for a protein of unknown function. We have raised a polyclonal antibody against a 12 amino acid peptide (residues 2110-2121 of human huntingtin) which specifically recognises huntingtin on West...

journal_title：Human molecular genetics

authors： Wood JD,MacMillan JC,Harper PS,Lowenstein PR,Jones AL

更新日期：1996-04-01 00:00:00

abstract：:A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-...

journal_title：Human molecular genetics

authors： de la Hoya M,Soukarieh O,López-Perolio I,Vega A,Walker LC,van Ierland Y,Baralle D,Santamariña M,Lattimore V,Wijnen J,Whiley P,Blanco A,Raponi M,Hauke J,Wappenschmidt B,Becker A,Hansen TV,Behar R,Investigators K,Nied

更新日期：2016-06-01 00:00:00

abstract：:Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration, and admixture. Ethnically diverse African populations harbor extremely high levels of genetic and phenotypic diversity, and skin pigmentation varies widely across Africa. Recent geno...

journal_title：Human molecular genetics

authors： Feng Y,McQuillan MA,Tishkoff SA

更新日期：2021-01-12 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of ...

journal_title：Human molecular genetics

authors： Motyl AAL,Faller KME,Groen EJN,Kline RA,Eaton SL,Ledahawsky LM,Chaytow H,Lamont DJ,Wishart TM,Huang YT,Gillingwater TH

更新日期：2020-09-29 00:00:00

abstract：:Homozygosity for Cst6 null alleles causes the phenotype of the ichq mouse, which is a model for human harlequin ichthyosis (OMIM 242500), a genetically heterogeneous group of keratinization disorders. Here we report evidence for the mechanism by which deficiency of the cysteine protease inhibitor cystatin M/E (the Cst...

journal_title：Human molecular genetics

authors： Zeeuwen PL,van Vlijmen-Willems IM,Olthuis D,Johansen HT,Hitomi K,Hara-Nishimura I,Powers JC,James KE,op den Camp HJ,Lemmens R,Schalkwijk J

更新日期：2004-05-15 00:00:00

abstract：:Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a distinct variant within this group of autosomal recessive blistering skin diseases. In this study we demonstrate, for the first time, a homozygous mutation in the alpha6 integrin gene (ITGA6) in a family with three affected individuals. ...

journal_title：Human molecular genetics

authors： Pulkkinen L,Kimonis VE,Xu Y,Spanou EN,McLean WH,Uitto J

更新日期：1997-05-01 00:00:00

abstract：:Amelogenesis imperfecta (AI), is an inherited odontological disease which affects the formation of enamel. We report a linkage analysis study performed on three Swedish families, where the affected members had an autosomal dominant variant of AI (ADAI) clinically characterized as local hypoplastic. Significant linkage...

journal_title：Human molecular genetics

authors： Forsman K,Lind L,Bäckman B,Westermark E,Holmgren G

更新日期：1994-09-01 00:00:00

abstract：:Lung cancer demonstrates the highest mortality in the UK. Previous studies have implicated allelic loss at chromosome 17q in the development of non-small cell lung carcinoma (NSCLC), and a number of known and putative tumour-suppressor genes reside within this region. One candidate tumour-suppressor gene is cytoglobin...

journal_title：Human molecular genetics

authors： Xinarianos G,McRonald FE,Risk JM,Bowers NL,Nikolaidis G,Field JK,Liloglou T

更新日期：2006-07-01 00:00:00

abstract：:The electrocardiogram has several advantages in detecting cardiac arrhythmia-it is readily available, noninvasive and cost-efficient. Recent genome-wide association studies have identified single-nucleotide polymorphisms that are associated with electrocardiogram measures. We performed a genome-wide association study ...

journal_title：Human molecular genetics

authors： Hong KW,Lim JE,Kim JW,Tabara Y,Ueshima H,Miki T,Matsuda F,Cho YS,Kim Y,Oh B

更新日期：2014-12-15 00:00:00

abstract：:Ankylosing spondylitis (AS) remains difficult to diagnose before irreversible damage to sacroiliac joint is noticeable. Circulating microRNAs have demonstrated to serve as diagnostic tools for several human diseases. Here, we analysed plasma microRNAs to identify potential AS biomarkers. Higher expression levels of mi...

journal_title：Human molecular genetics

authors： Perez-Sanchez C,Font-Ugalde P,Ruiz-Limon P,Lopez-Pedrera C,Castro-Villegas MC,Abalos-Aguilera MC,Barbarroja N,Arias-de la Rosa I,Lopez-Montilla MD,Escudero-Contreras A,Lopez-Medina C,Collantes-Estevez E,Jimenez-Gomez Y

更新日期：2018-03-01 00:00:00

abstract：:Target genes for the helicase-like transcription factor (HLTF), a member of the SNF/SWI family, were immunoprecipitated from HeLa chromatin fragments with an anti-HLTF antibody. A 182 bp fragment ( HEFT1 ) presented 87% sequence identity with 3.3 kb dispersed repeats from the 4q35 D4Z4 locus linked to facioscapulohume...

journal_title：Human molecular genetics

authors： Ding H,Beckers MC,Plaisance S,Marynen P,Collen D,Belayew A

更新日期：1998-10-01 00:00:00

abstract：:Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated ...

journal_title：Human molecular genetics

authors： Thomasson R,Vignier N,Peccate C,Mougenot N,Noirez P,Muchir A

更新日期：2019-07-01 00:00:00

abstract：:Even though heritability estimates suggest that the risk of asthma, hay fever and eczema is largely due to genetic factors, previous studies have not explained a large part of the genetics behind these diseases. In this genome-wide association study, we include 346 545 Caucasians from the UK Biobank to identify novel ...

journal_title：Human molecular genetics

authors： Johansson Å,Rask-Andersen M,Karlsson T,Ek WE

更新日期：2019-12-01 00:00:00

abstract：:Lysosomal neuraminidase (sialidase) occurs in a high molecular weight complex with the glycosidase beta-galactosidase and the serine carboxypeptidase protective protein/cathepsin A (PPCA). Association of the enzyme with PPCA is crucial for its correct targeting and lysosomal activation. In man two genetically distinct...

journal_title：Human molecular genetics

authors： Rottier RJ,Bonten E,d'Azzo A

更新日期：1998-02-01 00:00:00

abstract：:The fragile X syndrome results from transcriptional silencing of the FMR1 gene and the absence of its encoded FMRP protein. Two autosomal homologues of the FMR1 gene, FXR1 and FXR2, have been identified and the overall structures of the corresponding proteins are very similar to that of FMRP. Using antibodies raised a...

journal_title：Human molecular genetics

authors： Khandjian EW,Bardoni B,Corbin F,Sittler A,Giroux S,Heitz D,Tremblay S,Pinset C,Montarras D,Rousseau F,Mandel J

更新日期：1998-12-01 00:00:00