The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.

abstract：:A linkage analysis with chromosome 9 markers was performed in 33 families with Friedreich ataxia (FA). Linkage with D9S15, previously established by S. Chamberlain et al. (1988, Nature London 334:248-249) was confirmed in our sample (z(theta) = 6.82 at theta = 0.02) while INFB (interferon-beta gene) shows looser linka...

journal_title：Genomics

authors： Fujita R,Agid Y,Trouillas P,Seck A,Tommasi-Davenas C,Driesel AJ,Olek K,Grzeschik KH,Nakamura Y,Mandel JL,Hanauer A

更新日期：1989-01-01 00:00:00

abstract：:To investigate the relationship between meiotic crossover hot spots and block-like linkage disequilibrium (LD), we have extended our high-resolution studies of the human MHC class II region to a 90-kb segment upstream of the HLA-DOA gene. LD blocks in this region are not as well defined as in the neighboring 210-kb DN...

journal_title：Genomics

authors： Kauppi L,Stumpf MP,Jeffreys AJ

更新日期：2005-07-01 00:00:00

abstract：:Four highly conserved members of the skeletal protein 4.1 gene family encode a diverse array of protein isoforms via tissue-specific transcription and developmentally regulated alternative pre-mRNA splicing. In addition to the prototypical red blood cell 4.1R (human gene symbol EPB41,) these include two homologues tha...

journal_title：Genomics

authors： Peters LL,Weier HU,Walensky LD,Snyder SH,Parra M,Mohandas N,Conboy JG

更新日期：1998-12-01 00:00:00

abstract：:The human gene XPC (formerly designated XPCC), which corrects the repair deficiency of xeroderma pigmentosum (XP) group C cells, was mapped to 3p25. A cDNA probe for Southern blot hybridization and diagnostic PCR analyses of hybrid clone panels informative for human chromosomes in general and portions of chromosome 3 ...

journal_title：Genomics

authors： Legerski RJ,Liu P,Li L,Peterson CA,Zhao Y,Leach RJ,Naylor SL,Siciliano MJ

更新日期：1994-05-01 00:00:00

abstract：:A rat genomic library was screened using a gastric H,K-ATPase beta-subunit cDNA probe, and two clones were identified. Restriction endonuclease mapping and Southern hybridization analyses indicated that each of these clones contains the entire H,K-ATPase beta-subunit gene. The nucleotide sequence was determined for th...

journal_title：Genomics

authors： Newman PR,Shull GE

更新日期：1991-10-01 00:00:00

abstract：:DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

journal_title：Genomics

authors： Köllner M,Greulich KO

更新日期：1994-09-01 00:00:00

abstract：:Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We ...

journal_title：Genomics

authors： Hewett D,Samuelsson L,Polding J,Enlund F,Smart D,Cantone K,See CG,Chadha S,Inerot A,Enerback C,Montgomery D,Christodolou C,Robinson P,Matthews P,Plumpton M,Wahlstrom J,Swanbeck G,Martinsson T,Roses A,Riley J,Purvi

更新日期：2002-03-01 00:00:00

abstract：:Human/rodent somatic cell hybrids have been exceedingly useful in assigning human genes and DNA sequences to specific human chromosomes. As new technologies for analyzing the human chromosome complement of such human/rodent hybrid cells become available, it is of critical importance that these be applied to enhance ch...

journal_title：Genomics

authors： Patterson D,Hart I,Lai LW,Brahe C,Moscetti A,Tassone F,Raimondi E,Jones C

更新日期：1993-01-01 00:00:00

abstract：:The chromosomal localization of the human Mu class glutathione S-transferase (GST) genes has been complicated by two factors; the total number of genes is unknown and there is a polymorphism that results from the presence or absence of the GSTM1 gene. Three human Mu class glutathione S-transferase isoenzymes, GSTM1, G...

journal_title：Genomics

authors： Ross VL,Board PG,Webb GC

更新日期：1993-10-01 00:00:00

abstract：:Unbalanced chromosome translocations with breakpoints around 8p12, resulting in loss of distal 8p, are common in carcinomas. We have mapped the 8p12 breakpoints in three breast cancer cell lines, T-47D, MDA-MB-361, and ZR-75-1, using YACs and PACs between D8S540 and D8S255 by fluorescence in situ hybridization. All th...

journal_title：Genomics

authors： Courtay-Cahen C,Morris JS,Edwards PA

更新日期：2000-05-15 00:00:00

abstract：:Talin is a high-molecular-weight cytoskeletal protein, localized at cell-extracellular matrix associations known as focal contacts. In these regions, talin is thought to link integrin receptors to the actin cytoskeleton. Talin plays a key role in the assembly of actin filaments and in spreading and migration of variou...

journal_title：Genomics

authors： Ben-Yosef T,Francomano CA

更新日期：1999-12-01 00:00:00

abstract：:Proteins governing cell death form the basis of many normal processes and contribute to the pathogenesis of many diseases when dysregulated. Here we report the cloning of a novel human CED-4-like gene, CLAN, and several of its alternatively spliced isoforms. These caspase-associated recruitment domain (CARD)-containin...

journal_title：Genomics

authors： Damiano JS,Stehlik C,Pio F,Godzik A,Reed JC

更新日期：2001-07-01 00:00:00

abstract：:Our previous genetic map for chromosome 17 has been expanded to include 72 loci defined by 90 RFLP markers and four microsatellite markers assayed by the polymerase chain reaction. Forty-one of these loci were ordered with odds greater than 1000:1 against local inversion, and the other 31 were ordered within 95% confi...

journal_title：Genomics

authors： O'Connell P,Plaetke R,Matsunami N,Odelberg S,Jorde L,Chance P,Leppert M,Lalouel JM,White R

更新日期：1993-01-01 00:00:00

abstract：:SLUG is a member of the snail family of zinc finger proteins. It is involved in epithelial to mesenchyme cell transition during neurulation and plays a role in limb bud development. We have isolated and described the human SLUG gene by sequencing a region spanning 4034 bp. The human SLUG gene contains three exons. The...

journal_title：Genomics

authors： Cohen ME,Yin M,Paznekas WA,Schertzer M,Wood S,Jabs EW

更新日期：1998-08-01 00:00:00

abstract：:PCR primers specific to the human liver fructose-1,6-bisphosphatase (FBP) gene were designed and used to isolate a cosmid clone. Physical mapping of the FBP cosmid by FISH, and genetic mapping of an associated GA repeat polymorphism (PIC = 0.35), located the liver FBP gene to chromosome 9q22.3 with no recombination be...

journal_title：Genomics

authors： Rothschild CB,Freedman BI,Hodge R,Rao PN,Pettenati MJ,Anderson RA,Akots G,Qadri A,Roh B,Fajans SS

更新日期：1995-09-01 00:00:00

abstract：:The Long Evans cinnamon (LEC) rat is highly susceptible to X-irradiation due to defective DNA repair and is thus a model for hepatocellular carcinogenesis. We constructed a bacterial artificial chromosome (BAC) contig of rat chromosome 4 completely covering the region associated with radiation susceptibility. We used ...

journal_title：Genomics

authors： Tsuji AB,Sugyo A,Sudo H,Sagara M,Ishikawa A,Ohtsuki M,Kimura T,Ogiu T,Miyagishi M,Taira K,Imai T,Harada YN

更新日期：2006-02-01 00:00:00

abstract：:During growth, invasion, and metastasis, tumor cells interact extensively with the surrounding stroma. To identify genes that are upregulated during this process, we compared mRNA pooled from tumor cells and fibroblasts cultured separately to mRNA from cells in coculture. Using differential display (DD), a transcript ...

journal_title：Genomics

authors： Nielsen HL,Rønnov-Jessen L,Villadsen R,Petersen OW

更新日期：2002-05-01 00:00:00

abstract：:There is a compelling need to identify novel genetic variants for papillary thyroid cancer (PTC) susceptibility. The Cancer Genome Atlas (TCGA) data showed associations between SPP1 and SPARC mRNA overexpression and aggressive behaviors of PTC, which prompted us to assess potential associations between genetic variant...

journal_title：Genomics

authors： Su X,Xu BH,Zhou DL,Ye ZL,He HC,Yang XH,Zhang X,Liu Q,Ma JJ,Shao Q,Yang AK,He CY

更新日期：2020-11-01 00:00:00

abstract：:The PMP22/EMP/MP20 gene family includes four closely related proteins, peripheral myelin protein-22 (PMP22), epithelial membrane protein-1 (EMP-1), epithelial membrane protein-2 (EMP-2), and epithelial membrane protein-3 (EMP-3), which share amino acid identities ranging from 33 to 43%. In addition, the lens-specific ...

journal_title：Genomics

authors： Lobsiger CS,Magyar JP,Taylor V,Wulf P,Welcher AA,Program AE,Suter U

更新日期：1996-09-15 00:00:00

abstract：:We have developed a graphical image database CancerProView (URL: http://cancerproview.dmb.med.keio.ac.jp/php/cpv.html) to assist the search for alterations of the motifs/domains in the cancer-related proteins that are caused by mutations in the corresponding genes. For the CancerProView, we have collected various kind...

journal_title：Genomics

authors： Mitsuyama S,Shimizu N

更新日期：2012-08-01 00:00:00

abstract：:This work describes a novel method, multiplex solid-phase fluorescent minisequencing, for the simultaneous detection of several point mutations and/or small deletions and insertions. The method is applied to the analysis of mitochondrial DNA polymorphisms for the purposes of individual identification. A database of 15...

journal_title：Genomics

authors： Tully G,Sullivan KM,Nixon P,Stones RE,Gill P

更新日期：1996-05-15 00:00:00

abstract：:In our previous studies, diploid and triploid hybrids have been detected from the hybridization of Epinephelus coioides♀ × E. lanceolatus♂. The triploid groupers have been found to be delayed in gonadal development, but the mechanism remains poorly understood. In this study, we examined the gonadal development, assaye...

journal_title：Genomics

authors： Xiao L,Wang D,Guo Y,Tang Z,Liu Q,Li S,Zhang Y,Lin H

更新日期：2019-05-01 00:00:00

abstract：:Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...

journal_title：Genomics

authors： Heus HC,Hing A,van Baren MJ,Joosse M,Breedveld GJ,Wang JC,Burgess A,Donnis-Keller H,Berglund C,Zguricas J,Scherer SW,Rommens JM,Oostra BA,Heutink P

更新日期：1999-05-01 00:00:00

abstract：:The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...

journal_title：Genomics

authors： Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

更新日期：2005-08-01 00:00:00

abstract：:Down syndrome is a major cause of mental retardation and congenital heart defects and is due to the presence of three copies of human chromosome 21 in the affected individual. We have identified a gene, DSCR1 (HGMW-approved symbol), from the region 21q22.1-q22.2, which is highly expressed in human fetal brain and adul...

journal_title：Genomics

authors： Fuentes JJ,Pritchard MA,Estivill X

更新日期：1997-09-15 00:00:00

abstract：:We reported HIVID (high-throughput Viral Integration Detection), a novel experimental and computational method to detect the location of Hepatitis B Virus (HBV) integration breakpoints in Hepatocellular Carcinoma (HCC) genome. In this method, the fragments with HBV sequence were enriched by a set of HBV probes and the...

journal_title：Genomics

authors： Li W,Zeng X,Lee NP,Liu X,Chen S,Guo B,Yi S,Zhuang X,Chen F,Wang G,Poon RT,Fan ST,Mao M,Li Y,Li S,Wang J,Jianwang,Xu X,Jiang H,Zhang X

更新日期：2013-10-01 00:00:00

abstract：:Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...

journal_title：Genomics

authors： Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

更新日期：2011-02-01 00:00:00

abstract：:Haemophilia is an X-linked genetic disorder in which A and B types are the most common that occur due to absence or lack of protein factors VIII and IX, respectively. Severity of the disease depends on mutation. Available Machine Learning (ML) methods that predict the mutational severity by using traditional encoding ...

journal_title：Genomics

authors： Singh VK,Maurya NS,Mani A,Yadav RS

更新日期：2020-11-01 00:00:00

abstract：:Glutamate dehydrogenase is a mitochondrially located, key metabolic enzyme. In addition to its general metabolic role, GLUD is important in neurotransmission. Significant alterations in GLUD enzymatic activity have been associated with certain neurodegenerative human disorders. Although a single species of human GLUD ...

journal_title：Genomics

authors： Michaelidis TM,Tzimagiorgis G,Moschonas NK,Papamatheakis J

更新日期：1993-04-01 00:00:00

abstract：:Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient. Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material, a result consistent with premature termination of dystrophin translation. The ...

journal_title：Genomics

authors： Bulman DE,Gangopadhyay SB,Bebchuck KG,Worton RG,Ray PN

更新日期：1991-06-01 00:00:00