The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

abstract：:This study presented 96 cox1 and 76 cox3 genes of Amphioctopus neglectus populations. Three distinct lineages were formed from phylogenetic trees and networks constructed using haplotypes. Mitogenomes of A. neglectus-a and A. neglectus-b as the representatives of two lineages separated from population genetics were se...

journal_title：Genomics

authors： Tang Y,Zheng X,Liu H,Sunxie F

更新日期：2020-11-01 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：:SOX proteins are transcription factors that are characterized by a common DNA-binding motif known as the HMG domain. We describe the 5. 4-kb human SOX8 gene that codes for a 446-amino-acid protein and that is expressed strongly in brain and less abundantly in other tissues. SOX8 shows an overall identity of 47% to SOX...

journal_title：Genomics

authors： Pfeifer D,Poulat F,Holinski-Feder E,Kooy F,Scherer G

更新日期：2000-01-01 00:00:00

abstract：:Members of the Janus (JAK) protein tyrosine kinase family including JAK3 have recently emerged as important components in cytokine signal transduction. Mutations of JAK3 have been found in a number of patients who present with severe combined immunodeficiency. To facilitate the further identification of JAK3-SCID pati...

journal_title：Genomics

authors： Riedy MC,Dutra AS,Blake TB,Modi W,Lal BK,Davis J,Bosse A,O'Shea JJ,Johnston JA

更新日期：1996-10-01 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 chromosomal band 17p11.2 is associated with a number of neurological disorders and malignant diseases. This region is also characterized by the presence of complex repeat elements that are probably responsible for the frequent occurrence of interstitial deletions, duplications, and isochromosome formation. In the ...

journal_title：Genomics

authors： Seranski P,Heiss NS,Dhorne-Pollet S,Radelof U,Korn B,Hennig S,Backes E,Schmidt S,Wiemann S,Schwarz CE,Lehrach H,Poustka A

更新日期：1999-02-15 00:00:00

abstract：:The complete nucleotide sequence of murine beta-glucuronidase (GUS) mRNA has been compiled from three overlapping cloned cDNAs and a single GUS-specific genomic clone. The sequence is composed of 2455 nucleotides, exclusive of the poly(A) tail. The 5' and 3' untranslated regions contain 12 and 499 bases, respectively,...

journal_title：Genomics

authors： Gallagher PM,D'Amore MA,Lund SD,Ganschow RE

更新日期：1988-04-01 00:00:00

abstract：:Genes homologous to those located on human chromosome 4 (HSA4) were mapped in the bovine to determine regions of syntenic conservation among humans, mice, and cattle. Previous studies have shown that two homologs of genes on HSA4, PGM2 and PEPS, are located in bovine syntenic group U15 (chromosome 6). The homologous m...

journal_title：Genomics

authors： Zhang N,Threadgill DW,Womack JE

更新日期：1992-09-01 00:00:00

abstract：:The gene for X-linked agammaglobulinemia (XLA) has been mapped to Xq22. No recombinations have been reported between the gene and the probe p212 at DXS178; however, this probe is informative in only 30-40% of women and the reported flanking markers, DXS3 and DXS94, are 10-15 cM apart. To identify additional probes tha...

journal_title：Genomics

authors： Parolini O,Hejtmancik JF,Allen RC,Belmont JW,Lassiter GL,Henry MJ,Barker DF,Conley ME

更新日期：1993-02-01 00:00:00

abstract：:A genome-wide view of sequence mutability in mice is still limited, although biologists usually assume the same scenario for mice as for humans. In this study, we examined the sequence context in the local environment of 482,528 mouse single nucleotide polymorphisms (SNPs). We found that CpG-containing short sequences...

journal_title：Genomics

authors： Zhao Z,Zhang F

更新日期：2006-01-01 00:00:00

abstract：:The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. In this report, we present a corrected genomic sequence, genomic structure, and refined chromosomal location for KiSS-1. The genomic organization of the sequence revea...

journal_title：Genomics

authors： West A,Vojta PJ,Welch DR,Weissman BE

更新日期：1998-11-15 00:00:00

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 00:00:00

abstract：:Type A receptors of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, contain alpha, beta, delta, gamma, and rho subunits. The gamma subunit has four subtypes: gamma1, gamma2, gamma3, andgamma4. GABA(A) receptor-associated protein (GABARAP) was previously demonstrated to act as a linker protein between m...

journal_title：Genomics

authors： Xin Y,Yu L,Chen Z,Zheng L,Fu Q,Jiang J,Zhang P,Gong R,Zhao S

更新日期：2001-06-15 00:00:00

abstract：:The mouse protein kinase CK2 beta subunit gene (Csnk2b) is composed of seven exons contained within 7874 bp. The exon and intron lengths extend from 76 to 321 and 111 to 1272 bp, respectively. The lengths of the murine coding exons correspond exactly to the lengths of the exons in the human CK2 beta gene. Both genes c...

journal_title：Genomics

authors： Boldyreff B,Issinger OG

更新日期：1995-09-01 00:00:00

abstract：:The presence of an extra copy of human chromosome 21 (trisomy 21), especially region 21q22.2, causes many phenotypes in Down syndrome, including mental retardation. To study genes potentially responsible for some of these phenotypes, we cloned a human candidate gene (DYRK) from 21q22.2 and its murine counterpart (Dyrk...

journal_title：Genomics

authors： Song WJ,Sternberg LR,Kasten-Sportès C,Keuren ML,Chung SH,Slack AC,Miller DE,Glover TW,Chiang PW,Lou L,Kurnit DM

更新日期：1996-12-15 00:00:00

abstract：:Genotypes and allelic frequencies of TPH2, 5-HTTLPR, the 5-HTT (SLC6A4) intron 2 variable-number tandem repeat (VNTR) region, and the MAOA VNTR region were determined in brain-stem samples of 20 "genuine" SIDS cases and compared with results obtained from 150 healthy controls. The SNP G1463A responsible for 80% functi...

journal_title：Genomics

authors： Nonnis Marzano F,Maldini M,Filonzi L,Lavezzi AM,Parmigiani S,Magnani C,Bevilacqua G,Matturri L

更新日期：2008-06-01 00:00:00

abstract：:In this report we present the genomic, cDNA, and predicted protein sequences for mouse apolipoproteins A-I and CIII, as well as sequence comparisons with other species. The genes for these apolipoproteins are within 2.5 kb of each other and convergently transcribed. The almost 9 kb of genomic sequence presented extend...

journal_title：Genomics

authors： Januzzi JL,Azrolan N,O'Connell A,Aalto-Setälä K,Breslow JL

更新日期：1992-12-01 00:00:00

abstract：:We report the mapping of the human gene MPB1 (c-myc promoter binding protein), a recently identified gene regulatory protein. MPB1 binds to the c-myc P2 promoter and exerts a negative regulatory role on c-myc transcription. Since exogenous expression from transfection of the MPB1 gene suppresses the tumorigenic proper...

journal_title：Genomics

authors： White RA,Adkison LR,Dowler LL,Ray RB

更新日期：1997-02-01 00:00:00

abstract：:CircRNA is a specific type of non-coding RNA that has been shown to have an important role in mammary gland (MG) activity, but no study of MG circRNA activity in sheep so far. In this study, the expression profile of circRNAs was investigated using RNA-Seq in MG parenchyma at peak lactation from Small-Tailed Han sheep...

journal_title：Genomics

authors： Hao Z,Zhou H,Hickford JGH,Gong H,Wang J,Hu J,Liu X,Li S,Zhao M,Luo Y

更新日期：2020-05-01 00:00:00

abstract：:Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...

journal_title：Genomics

authors： Pohar N,Godenschwege TA,Buchner E

更新日期：1999-04-15 00:00:00

abstract：:Treacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32----p14 was identified. Anonymous ...

journal_title：Genomics

authors： Jabs EW,Coss CA,Hayflick SJ,Whitmore TE,Pauli RM,Kirkpatrick SJ,Meyers DA,Goldberg R,Day DW,Rosenbaum KN

更新日期：1991-09-01 00:00:00

abstract：:Quantitative reverse transcription polymerase chain reaction (qRT-PCR) is currently viewed as the most precise technique to quantify levels of messenger RNA. Relative quantification compares the expression of a target gene under two or more experimental conditions normalized to the measured expression of a control gen...

journal_title：Genomics

authors： Steibel JP,Poletto R,Coussens PM,Rosa GJ

更新日期：2009-08-01 00:00:00

abstract：:To investigate the molecular mechanism of silkworm resistance to BmNPV infection, we constructed a near-isogenic line (BC8) with BmNPV resistance using highly resistant (NB) and highly susceptible parental strains (306). We investigated variations in the gene expression in the midguts of BmNPV-infected BC8 and 306 at ...

journal_title：Genomics

authors： Zhou Y,Gao L,Shi H,Xia H,Gao L,Lian C,Chen L,Yao Q,Chen K,Liu X

更新日期：2013-04-01 00:00:00

abstract：:Central to reconstruction of cis-regulatory networks is identification and classification of naturally occurring transcription factor-binding sites according to the genes that they control. We have examined salient characteristics of 9-mers that occur in various orders and combinations in the proximal promoters of hum...

journal_title：Genomics

authors： Bina M,Wyss P,Ren W,Szpankowski W,Thomas E,Randhawa R,Reddy S,John PM,Pares-Matos EI,Stein A,Xu H,Lazarus SA

更新日期：2004-12-01 00:00:00

abstract：:We report a comprehensive comparative analysis of human and mouse olfactory receptor (OR) genes encoding OR37 subtypes to determine the repertoire, chromosomal organization, and relatedness of these genes. Two OR37 clusters were found in both mouse (chromosome 4) and human (chromosome 9); with five genes in cluster I ...

journal_title：Genomics

authors： Hoppe R,Breer H,Strotmann J

更新日期：2003-09-01 00:00:00

abstract：:Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1, we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that enco...

journal_title：Genomics

authors： Acierno JS Jr,Kennedy JC,Falardeau JL,Leyne M,Bromley MC,Colman MW,Sun M,Bove C,Ashworth LK,Chadwick LH,Schiripo T,Ma S,Goldin E,Schiffmann R,Slaugenhaupt SA

更新日期：2001-04-15 00:00:00

abstract：:MSG1 (melanocyte-specific gene 1) is a recently isolated gene predominantly expressed in cultured normal melanocytes and pigmented melanoma cells. MSG1 encodes a 27-kDa nuclear protein that has strong intrinsic transcriptional transactivating activity. In this report, the human MSG1 gene was mapped to chromosome Xq13....

journal_title：Genomics

authors： Fenner MH,Parrish JE,Boyd Y,Reed V,MacDonald M,Nelson DL,Isselbacher KJ,Shioda T

更新日期：1998-08-01 00:00:00

abstract：:An area of 500 kb at the proximal end of the polycystic kidney disease 1 (PKD1) region has been mapped in detail, with 260 kb cloned in cosmids. The area cloned from normal individuals contains two homologous but divergent regions each of 75 kb, including the previously described marker 26-6. Pulsed-field gel electrop...

journal_title：Genomics

authors： Harris PC,Thomas S,MacCarthy AB,Stallings RL,Breuning MH,Jenne DE,Fink TM,Buckle VJ,Ratcliffe PJ,Ward CJ

更新日期：1994-09-15 00:00:00

abstract：:Mefloquine is associated with adverse neurological effects that are mediated via unknown mechanisms. Recent in vitro studies have shown that mefloquine disrupts neuronal calcium homeostasis via liberation of the endoplasmic reticulum (ER) store and induction of calcium influx across the plasma membrane. In the present...

journal_title：Genomics

authors： Dow GS,Caridha D,Goldberg M,Wolf L,Koenig ML,Yourick DL,Wang Z

更新日期：2005-11-01 00:00:00

abstract：:We examined the allele and haplotype frequencies of five polymorphic DNA markers in 355 European cystic fibrosis (CF) patients (from Belgium, the German Democratic Republic, Greece, and Italy) who were divided into two groups according to whether they were or not taking supplementary pancreatic enzymes. The level of l...

journal_title：Genomics

authors： Devoto M,De Benedetti L,Seia M,Piceni Sereni L,Ferrari M,Bonduelle ML,Malfroot A,Lissens W,Balassopoulou A,Adam G

更新日期：1989-11-01 00:00:00