Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.

abstract：:The ky mouse mutant, kyphoscoliosis, exhibits a degenerative muscle disease resulting in chronic deformation of the spinal column. Using an interspecific backcross segregating the ky mutation, we have mapped the ky locus to a small region of mouse chromosome 9. ky is nonrecombinant with the microsatellites D9Mit24 and...

journal_title：Genomics

authors： Skynner MJ,Gangadharan U,Coulton GR,Mason RM,Nikitopoulou A,Brown SD,Blanco G

更新日期：1995-01-01 00:00:00

abstract：:Members of the solute carrier family 25 (SLC25) are known to transport molecules over the mitochondrial membrane. In this paper we present 14 novel members of SLC25 family in human. These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A...

journal_title：Genomics

authors： Haitina T,Lindblom J,Renström T,Fredriksson R

更新日期：2006-12-01 00:00:00

abstract：:Parasites of the genus Plasmodium infect a wide array of hosts, causing malaria in all major groups of terrestrial vertebrates including primates, reptiles, and birds. Molecular mechanisms explaining why some Plasmodium species are virulent, while other closely related malaria pathogens are relatively benign in the sa...

journal_title：Genomics

authors： Weinberg J,Field JT,Ilgūnas M,Bukauskaitė D,Iezhova T,Valkiūnas G,Sehgal RNM

更新日期：2019-12-01 00:00:00

abstract：:Synucleins are a family of small intracellular proteins expressed mainly in the nervous system. The involvement of synucleins in neurodegeneration and malignancy has been demonstrated, but the physiological functions of these proteins remain elusive. Further studies including generation of animals with modified persyn...

journal_title：Genomics

authors： Alimova-Kost MV,Ninkina NN,Imreh S,Gnuchev NV,Adu J,Davies AM,Buchman VL

更新日期：1999-03-01 00:00:00

abstract：:A genetic linkage study of the RFLPs identified by nine DNA probes localized to the pericentromeric region and long arm of chromosome 17 has been undertaken in 16 families with von Recklinghausen neurofibromatosis (NF1). Close linkage has been shown with the markers CRI-L946 (D17S36), CRI-L581 (D17S37), p17H8 (D17Z1),...

journal_title：Genomics

authors： Upadhyaya M,Sarfarazi M,Huson SM,Stephens K,Broadhead W,Harper PS

更新日期：1987-12-01 00:00:00

abstract：:We describe here a method for DNA fingerprinting of human chromosomes by Alu-polymerase chain reaction (PCR) amplification of DNA from monochromosomal hybrids, following digestion with restriction endonucleases. DNA digestion with restriction enzymes prior to PCR amplification reduces the total number of amplified fra...

journal_title：Genomics

authors： Sidhu MS,Helen BK,Athwal RS

更新日期：1992-11-01 00:00:00

abstract：:The v-ets oncogene family shares a conserved peptide motif called the ETS domain that mediates sequence-specific DNA binding. This motif is unique among transcription factor families. Using partially degenerate oligonucleotides from conserved regions of the ETS domain and the polymerase chain reaction, we isolated a n...

journal_title：Genomics

authors： Klemsz M,Hromas R,Raskind W,Bruno E,Hoffman R

更新日期：1994-03-15 00:00:00

abstract：:FAT, a new member of the human cadherin super-family, has been isolated from the T-leukemia cell line J6. The predicted protein closely resembles the Drosophila tumor suppressor fat, which is essential for controlling cell proliferation during Drosophila development. The gene has the potential to encode a large transm...

journal_title：Genomics

authors： Dunne J,Hanby AM,Poulsom R,Jones TA,Sheer D,Chin WG,Da SM,Zhao Q,Beverley PC,Owen MJ

更新日期：1995-11-20 00:00:00

abstract：:Variation at MHC Class II-DQA locus in riverine and swamp buffaloes (Bubu) has been explored in this study. Through sequencing of buffalo DQA, 48 nucleotide variants identified from 17 individuals, reporting 42 novel alleles, including one pseudogene. Individual animal displayed two to seven variants, suggesting the p...

journal_title：Genomics

authors： Mishra SK,Niranjan SK,Singh R,Kumar P,Kumar SL,Banerjee B,Kataria RS

更新日期：2020-11-01 00:00:00

abstract：:Biologic effects of androgen on target cells are mediated in part by transcriptional regulation of androgen-regulated genes (ARGs) by androgen receptor. Using serial analysis of gene expression (SAGE), we have identified a comprehensive repertoire of ARGs in LNCaP cells. One of the SAGE-derived tags exhibiting homolog...

journal_title：Genomics

authors： Xu LL,Shanmugam N,Segawa T,Sesterhenn IA,McLeod DG,Moul JW,Srivastava S

更新日期：2000-06-15 00:00:00

abstract：:Aneuploidy is a characteristic of the majority of human cancers, and recent work has suggested that mitotic checkpoint defects play a role in its development. To further explore this issue, we isolated a novel human gene, MAD2B (MAD2L2), which is homologous to the spindle checkpoint gene MAD2 (MAD2L1). We determined t...

journal_title：Genomics

authors： Cahill DP,da Costa LT,Carson-Walter EB,Kinzler KW,Vogelstein B,Lengauer C

更新日期：1999-06-01 00:00:00

abstract：:The sequence of the gorilla alpha-fetoprotein gene, including 869 base pairs of the 5' flanking region and 4892 base pairs of the 3' flanking region (24,607 in total), was determined from two overlapping lambda phage clones. The sequence extends 18,846 base pairs from the Cap site to the polyadenylation site, and it r...

journal_title：Genomics

authors： Ryan SC,Zielinski R,Dugaiczyk A

更新日期：1991-01-01 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：:We describe the construction and characterization of methylation-resistant sequence-tagged NotI linking clones specific for the X chromosome, referred to as NotI-BsuE linking clones. The approach consists of methylating the X-chromosome-specific cloned DNA with BsuE methylase (M. BsuE), an enzyme that methylates the f...

journal_title：Genomics

authors： Arenstorf HP,Kandpal RP,Baskaran N,Parimoo S,Tanaka Y,Kitajima S,Yasukochi Y,Weissman SM

更新日期：1991-09-01 00:00:00

abstract：:Cross-species comparative genomics is a powerful strategy for identifying functional regulatory elements within noncoding DNA. In this paper, comparative analysis of human and mouse intronic sequences in the breast cancer susceptibility gene (BRCA1) revealed two evolutionarily conserved noncoding sequences (CNS) in in...

journal_title：Genomics

authors： Wardrop SL,Brown MA,kConFab Investigators.

更新日期：2005-09-01 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：:The domestic dog is increasingly being recognized as a useful model for human disease. The aim of this study was to conduct the first detailed whole-genome comparison of human and dog using bidirectional heterologous chromosome painting (reciprocal Zoo-FISH) analysis. We used whole-chromosome paint probes produced fro...

journal_title：Genomics

authors： Breen M,Thomas R,Binns MM,Carter NP,Langford CF

更新日期：1999-10-15 00:00:00

abstract：:3',5'-Cyclic guanosine monophosphate is the intracellular second messenger regulating phototransduction in mammals. The level of cGMP in photoreceptor cells is controlled by the cGMP-hydrolyzing enzyme cGMP phosphodiesterase and the cGMP-producing enzyme guanylate cyclase. Identification of a photoreceptor-specific gu...

journal_title：Genomics

authors： Oliveira L,Miniou P,Viegas-Pequignot E,Rozet JM,Dollfus H,Pittler SJ

更新日期：1994-07-15 00:00:00

abstract：:A fluorescence in situ hybridization (FISH) physical map of 14 polymorphic loci on chromosome 10 covers over 62% of the fractional length of chromosome 10. The positions of three previously mapped loci are confirmed, nine more are refined, and two new loci are cytogenetically mapped. The order of loci determined by FI...

journal_title：Genomics

authors： Lichter JB,Difilippantonio MJ,Pakstis AJ,Goodfellow PJ,Ward DC,Kidd KK

更新日期：1993-05-01 00:00:00

abstract：:Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USHla locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two non...

journal_title：Genomics

authors： Eudy JD,Ma-Edmonds M,Yao SF,Talmadge CB,Kelley PM,Weston MD,Kimberling WJ,Sumegi J

更新日期：1997-07-01 00:00:00

abstract：:The human DAZ (deleted in azoospermia) gene family on the Y chromosome and an autosomal DAZ-like gene, DAZL1, encode RNA-binding proteins that are expressed exclusively in germ cells. Their role in spermatogenesis is supported by their homology with a Drosophila male infertility gene boule and sterility of Daz11 knock...

journal_title：Genomics

authors： Tsui S,Dai T,Roettger S,Schempp W,Salido EC,Yen PH

更新日期：2000-05-01 00:00:00

abstract：:Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysi...

journal_title：Genomics

authors： Wong P,MacDonald IM,Sood R,Smith C,Pilon R,Tenniswood M

更新日期：1993-03-01 00:00:00

abstract：:Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT c...

journal_title：Genomics

authors： Thompson MA,Moon E,Kim UJ,Xu J,Siciliano MJ,Weinshilboum RM

更新日期：1999-11-01 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：:We have isolated and sequenced part of a new gene of the tyrosine kinase family. This gene, called FLT3, has strong sequence similarities with members of a group of genes encoding growth factor receptors: FMS, KIT, and PDGFR. We have localized the human FLT3 gene to chromosome 13, band q12, and its mouse homolog to ch...

journal_title：Genomics

authors： Rosnet O,Matteï MG,Marchetto S,Birnbaum D

更新日期：1991-02-01 00:00:00

abstract：:Cardiovascular disease (CVD) is an important cause of disease-related death worldwide. One of its main pathological bases is imbalances in gene expression. Non-coding RNAs are a class of transcripts that do not encode proteins. They include microRNA (miRNA), long noncoding RNA (lncRNA) and circular RNA (circRNA). They...

journal_title：Genomics

authors： Zhu L,Li N,Sun L,Zheng D,Shao G

更新日期：2020-10-22 00:00:00

abstract：:The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to t...

journal_title：Genomics

authors： Rojas K,Serrano de la Peña L,Gallardo T,Simmons A,Nyce K,McGrath R,Considine E,Vasko AJ,Peterson E,Grady D,Cox R,Andrew LJ,Lovett M,Overhauser J,Williams CJ

更新日期：1999-12-01 00:00:00

abstract：:A population of chromosome segment substitution lines was developed using KDML105 as the recurrent parent and one of DH212 (IR68586-F2-CA-143) or DH103 (IR68586-F2-CA-31) as the donor parent. The donor parents are part of a doubled haploid population from a cross between CT9993, an upland japonica accession, and IR622...

journal_title：Genomics

authors： Shearman JR

更新日期：2019-10-31 00:00:00

abstract：:Mammalian sex chromosomes are the remnants of an ancient autosomal pair present in the ancestral mammalian karyotype. As a consequence of random decay and chromosome rearrangements over evolutionary time, Y chromosome gene repertoires differ between eutherian lineages. To investigate the gene repertoire and transcript...

journal_title：Genomics

authors： Pearks Wilkerson AJ,Raudsepp T,Graves T,Albracht D,Warren W,Chowdhary BP,Skow LC,Murphy WJ

更新日期：2008-11-01 00:00:00

abstract：:The promoter is a regulatory DNA region and important for gene transcriptional regulation. It is located near the transcription start site (TSS) upstream of the corresponding gene. In the post-genomics era, the availability of data makes it possible to build computational models for robustly detecting the promoters as...

journal_title：Genomics

authors： Tayara H,Tahir M,Chong KT

更新日期：2020-03-01 00:00:00