A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome.

abstract：:Conductin or Axil, an Axin homolog, plays an important role in the regulation of beta-catenin stability in the Wnt signaling pathway. To facilitate the molecular analysis of the human gene, we isolated the human homolog, AXIN2. The cDNA contains a 2529-bp open reading frame and encodes a putative protein of 843 amino ...

journal_title：Genomics

authors： Mai M,Qian C,Yokomizo A,Smith DI,Liu W

更新日期：1999-02-01 00:00:00

abstract：:The key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...

journal_title：Genomics

authors： Wang Q,Han G,Ye J,Gao X,Niu H,Zhao J,Chai Y,Li N,Yin H

更新日期：2014-12-01 00:00:00

abstract：:The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...

journal_title：Genomics

authors： Koshizuka Y,Ikegawa S,Sano M,Nakamura K,Nakamura Y

更新日期：2001-03-15 00:00:00

abstract：:4-Hydroxyphenylpyruvic acid dioxygenase (HPD) is an important enzyme in tyrosine catabolism in most organisms. The activity of this enzyme is expressed mainly in the liver and developmentally regulated in mammals, and a genetic deficiency in this enzyme in humans and mice leads to hereditary tyrosinemia type 3. Using ...

journal_title：Genomics

authors： Awata H,Endo F,Matsuda I

更新日期：1994-10-01 00:00:00

abstract：:Properdin is a serum protein belonging to the alternative pathway of complement activation whose absence is often associated with fatal bacterial infections. Properdin deficiency segregates with an X-linked recessive pattern and its position has been recently refined by genetic linkage analysis to the proximal part of...

journal_title：Genomics

authors： Goundis D,Holt SM,Boyd Y,Reid KB

更新日期：1989-07-01 00:00:00

abstract：:Cytogenetic studies of banded chromosomes and fluorescence in situ hybridization (FISH) of several yeast artificial chromosomes (YACs) that are part of a 128-kb resolution physical map of a portion of 12q13 revealed that 4/14 (28%) lipomas have breakpoints in 12q13. These breakpoints are more than 10 Mb away from the ...

journal_title：Genomics

authors： Merscher S,Marondel I,Pedeutour F,Gaudray P,Kucherlapati R,Turc-Carel C

更新日期：1997-11-15 00:00:00

abstract：:The recent release of the domestic dog genome provides us with an ideal opportunity to investigate dog-specific genomic features. In this study, we performed a systematic analysis of CpG islands (CGIs), which are often considered gene markers, in the dog genome. Relative to the human and mouse genomes, the dog genome ...

journal_title：Genomics

authors： Han L,Zhao Z

更新日期：2009-08-01 00:00:00

abstract：:Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...

journal_title：Genomics

authors： Wang ND,Testa JR,Smith DI

更新日期：1992-12-01 00:00:00

abstract：:Androcam is a Drosophila melanogaster calmodulin-related protein that functions specifically in the testis. We show that the Acam gene is part of a cluster of three intronless genes arranged in a head-to-tail manner. The additional genes also encode calmodulin-related proteins with testis-specific transcription. Acam ...

journal_title：Genomics

authors： Pavlik P,Konduri V,Massa E,Simonette R,Beckingham KM

更新日期：2006-09-01 00:00:00

abstract：:We developed a sequence-ready physical map of a part of human chromosome 12p12.3-p13.2 where the natural killer gene complex (NKC) is located. The NKC includes a cluster of genes with structure similar to that of the Ca(2+)-dependent lectin superfamily of glycoproteins that are expressed on the surface of most natural...

journal_title：Genomics

authors： Renedo M,Arce I,Montgomery K,Roda-Navarro P,Lee E,Kucherlapati R,Fernández-Ruiz E

更新日期：2000-04-15 00:00:00

abstract：:Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported. Here we describe the identification of a 1.4...

journal_title：Genomics

authors： Malmgren H,Carlberg BM,Pettersson U,Bondeson ML

更新日期：1995-09-01 00:00:00

abstract：:The cerebral cortex is a tissue with a high degree of neuronal diversity. It consists of six cell layers with a unique set of neuronal subtypes. A crucial step in the process of cortical differentiation is the transition from a mitotically active neuroblast to a postmitotic young neuron. To identify genes involved in ...

journal_title：Genomics

authors： Britanova O,Lukyanov S,Gruss P,Tarabykin V

更新日期：2002-07-01 00:00:00

abstract：:Traditionally, somatic mutations are detected by examining DNA sequence. The maturity of sequencing technology has allowed researchers to screen for somatic mutations in the whole genome. Increasingly, researchers have become interested in identifying somatic mutations through RNAseq data. With this motivation, we eva...

journal_title：Genomics

authors： Sheng Q,Zhao S,Li CI,Shyr Y,Guo Y

更新日期：2016-05-01 00:00:00

abstract：:To establish syntenic relationships of phototransduction genes, we have mapped the genes encoding the alpha-, beta-, and gamma-subunits of rod cGMP phosphodiesterase (PDE) (PDEA, PDEB, PDEG), the alpha'-subunit of cone PDE (PDEA2), and the rod cGMP-gated channel (CNCG) to bovine syntenic groups. The rod cGMP PDE alpha...

journal_title：Genomics

authors： Gallagher DS Jr,Womack JE,Baehr W,Pittler SJ

更新日期：1992-11-01 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：:Imprinting is an epigenetic modification that is reprogrammed in the germ line and leads to the monoallelic expression of some genes. Imprinting involves DNA methylation. Maternal imprint is reset during oocyte growth and maturation. In vitro maturation (IVM) of oocytes may, therefore, interfere with imprint acquisiti...

journal_title：Genomics

authors： Borghol N,Lornage J,Blachère T,Sophie Garret A,Lefèvre A

更新日期：2006-03-01 00:00:00

abstract：:We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovi...

journal_title：Genomics

authors： Tilstra DJ,Li L,Potter KA,Womack J,Byers PH

更新日期：1994-09-15 00:00:00

abstract：:In an attempt to identify the genetic basis for susceptibility to non-insulin-dependent diabetes mellitus within the context of obesity, we generated 401 genetically obese Leprfa/Leprfa F2 WKY13M intercross rats that demonstrated wide variation in multiple phenotypic measures related to diabetes, including plasma gluc...

journal_title：Genomics

authors： Chung WK,Zheng M,Chua M,Kershaw E,Power-Kehoe L,Tsuji M,Wu-Peng XS,Williams J,Chua SC Jr,Leibel RL

更新日期：1997-05-01 00:00:00

abstract：:We present a novel method, based on the hybridization of allele-specific oligonucleotide probes, that allows the specific detection of chromosome 21 alpha-satellite sequences. Absence of informative polymorphic markers from the centromeric region of chromosome 21 has constituted one of the difficulties in studying the...

journal_title：Genomics

authors： Maratou K,Siddique Y,Kessling AM,Davies GE

更新日期：1999-05-01 00:00:00

abstract：:The TLE genes are the human homologues of Drosophila groucho, a member of the Notch signaling pathway. This pathway controls a number of different cell-fate choices in invertebrates and vertebrates. We are interested in investigating the functions of the TLE gene family during epithelial determination and carcinogenes...

journal_title：Genomics

authors： Liu Y,Dehni G,Purcell KJ,Sokolow J,Carcangiu ML,Artavanis-Tsakonas S,Stifani S

更新日期：1996-01-01 00:00:00

abstract：:Friedreich ataxia results from frataxin insufficiency caused by repeat expansion in intron 1 of the frataxin gene. Since the coding sequence is unchanged, the potential exists to ameliorate symptoms by increasing frataxin promoter activity. We therefore defined the minimal frataxin promoter in humans. Despite the fact...

journal_title：Genomics

authors： Greene E,Entezam A,Kumari D,Usdin K

更新日期：2005-02-01 00:00:00

abstract：:The extremely high proliferation rate of tumor cells contributes to pancreatic cancer (PC) progression. Runt-related transcription factor 1(RUNX1), a key factor in hematopoiesis that was correlated with tumor progression. However, the role of RUNX1 in PC proliferation was still unclear. We found that RUNX1 was signifi...

journal_title：Genomics

authors： Liu S,Xie F,Gan L,Peng T,Xu X,Guo S,Fu W,Wang Y,Ouyang Y,Yang J,Wang X,Zheng Y,Zhang J,Wang H

更新日期：2020-11-01 00:00:00

abstract：:We have used probes from the human genes PI, PIL, and AACT (alpha 1-antitrypsin, alpha 1-antitrypsin-related sequence, and alpha 1-antichymotrypsin) to make a pulsed-field map of the surrounding region of 14q31-32. We have discovered that the PI-PIL gene cluster is only 220 kb away from the AACT gene and that it is or...

journal_title：Genomics

authors： Sefton L,Kelsey G,Kearney P,Povey S,Wolfe J

更新日期：1990-07-01 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 humans, uridine 5'-diphosphate glucuronosyltransferase (UGT) operates in opposition to glucuronidase (GUS) to control activity of diverse metabolites such as hormones by reversible conjugation with glucuronic acid. Previous data revealed that, as in mammals, these enzymes are required for plant life in that a UGT f...

journal_title：Genomics

authors： Woo HH,Jeong BR,Hirsch AM,Hawes MC

更新日期：2007-07-01 00:00:00

abstract：:Identifying heterogeneity in chronic obstructive pulmonary disease (COPD) phenotypes is important for the development of personalized medicine. Genome-wide analysis was used to compare the methylation levels of peripheral blood mononuclear cell (PBMC) samples from 24 acute-exacerbation (AE) COPD patients with good/poo...

journal_title：Genomics

authors： Lee SW,Hwang HH,Hsu PW,Chuang TY,Liu CW,Wu LS

更新日期：2019-12-01 00:00:00

abstract：:While scanning for single-nucleotide polymorphisms (SNPs) in the human Xq25-q28 region of CEPH families, we found six long "deserts" of low SNP incidence representing 28% of the investigated genome. One was 1.66 Mb in length. To determine whether these SNP deserts were due to reduced input of mutations or to recent co...

journal_title：Genomics

authors： Miller RD,Taillon-Miller P,Kwok PY

更新日期：2001-01-01 00:00:00

abstract：:A comparison of the murine and human junB loci reveals nine regions of distal 5'- and 3'-flanking DNA that exhibit greater than 72% sequence identity. A large fraction (over 50%) of the junB locus is contained in these flanking evolutionarily conserved sequences (FECS), which may be required for effecting the proper t...

journal_title：Genomics

authors： Phinney DG,Tseng SW,Ryder K

更新日期：1995-07-20 00:00:00

abstract：:We recently reported the identification of a mouse cDNA encoding a new p53-associating protein that we called Mdmx because of its structural similarity to Mdm2, a well-known p53-binding protein. Here we report the isolation of a cDNA encoding the human homolog of Mdmx. The ORF of the cDNA encodes a protein of 490 amin...

journal_title：Genomics

authors： Shvarts A,Bazuine M,Dekker P,Ramos YF,Steegenga WT,Merckx G,van Ham RC,van der Houven van Oordt W,van der Eb AJ,Jochemsen AG

更新日期：1997-07-01 00:00:00

abstract：:A relatively abundant component of the polymorphonuclear leukocyte granulocytes has been recently isolated and called defensin. Defensins have antimicrobial activity against gram-positive and gram-negative bacteria and enveloped viruses. A cDNA insert for defensin HNP-1 (DEF1) has been used to map the gene(s) to human...

journal_title：Genomics

authors： Sparkes RS,Kronenberg M,Heinzmann C,Daher KA,Klisak I,Ganz T,Mohandas T

更新日期：1989-08-01 00:00:00