Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

abstract：:Next generation sequencing techniques produce enormous data but its analysis and visualization remains a big challenge. To address this, we have developed Genome Annotator Light(GAL), a Docker based package for genome analysis and data visualization. GAL integrated several existing tools and in-house programs inside a...

journal_title：Genomics

authors： Panda A,Chaudhari NM,Tripathy S

更新日期：2020-01-01 00:00:00

abstract：:The gene for prosaposin was characterized by sequence analysis of chromosomal DNA to gain insight into the evolution of this locus that encodes four highly conserved sphingolipid activator proteins or saposins. The 13 exons ranged in size from 57 to 1200 bp, while the introns were from 91 to 3812 bp in length. The reg...

journal_title：Genomics

authors： Rorman EG,Scheinker V,Grabowski GA

更新日期：1992-06-01 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 dense gene-based SNP map was constructed across a 360-kb region containing the interleukin-1 gene cluster (IL1A, IL1B, and IL1RN), focusing on IL1RN. In total, 95 polymorphisms were confirmed or identified primarily by direct sequencing. Polymorphisms were precisely mapped to completed BAC and genomic sequences span...

journal_title：Genomics

authors： Bensen JT,Langefeld CD,Hawkins GA,Green LE,Mychaleckyj JC,Brewer CS,Kiger DS,Binford SM,Colicigno CJ,Allred DC,Freedman BI,Bowden DW

更新日期：2003-08-01 00:00:00

abstract：:We have constructed a 1-Mb contig in human chromosomal band 11p15.5, a region implicated in the etiology of several embryonal tumors, including Wilms tumor, and in Beckwith-Wiedemann syndrome. Cosmid, P1, PAC, and BAC clones were characterized by NotI/SalI digestion and hybridized to a variety of probes to generate a ...

journal_title：Genomics

authors： Reid LH,Davies C,Cooper PR,Crider-Miller SJ,Sait SN,Nowak NJ,Evans G,Stanbridge EJ,deJong P,Shows TB,Weissman BE,Higgins MJ

更新日期：1997-08-01 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：:The complete coding sequence for mouse tropoelastin was obtained from overlapping reverse transcriptase polymerase chain reaction (PCR) amplimers. These cDNA fragments were derived from mouse tropoelastin mRNA using PCR oligomers complementary to conserved domains within rat tropoelastin mRNA. A comparison of coding d...

journal_title：Genomics

authors： Wydner KS,Sechler JL,Boyd CD,Passmore HC

更新日期：1994-09-01 00:00:00

abstract：:The localization of a gene responsible for a normal variant of the human electroencephalogram to the distal part of chromosome 20q is reported. A linkage analysis, including 17 families with 191 individuals, tested with 73 RFLPs and 22 blood and serological markers, was performed for the low-voltage electroencephalogr...

journal_title：Genomics

authors： Steinlein O,Anokhin A,Yping M,Schalt E,Vogel F

更新日期：1992-01-01 00:00:00

abstract：:Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. Marfan syndrome has a variable phenotype, even within families carrying the same FBN1 mutation. Differences in gene expression resulting from sequence differences in the ...

journal_title：Genomics

authors： Summers KM,Bokil NJ,Baisden JM,West MJ,Sweet MJ,Raggatt LJ,Hume DA

更新日期：2009-10-01 00:00:00

abstract：:A genetic map of nine loci defined by polymorphic DNA markers was created using a single cross of F344/N and LEW/N rats. The markers contained polymorphic simple sequence repeats identified in five genes, renin (Ren), cardiac troponin T (Tnnt3), synaptotagmin (Syt2), Na+,K(+)-ATPase catalytic subunit (Atp1a2), and the...

journal_title：Genomics

authors： Remmers EF,Goldmuntz EA,Zha H,Mathern P,Du Y,Crofford LJ,Wilder RL

更新日期：1993-11-01 00:00:00

abstract：:We used targeted exon trapping to clone portions of genes from human chromosome 21q22.3. One trapped sequence showed complete homology with the cDNA of human U2AF35 (M96982; HGM-approved nomenclature U2AF1), which encodes for the small 35-kDa subunit of the U2 snRNP auxiliary factor. Using the U2AF1 cDNA as a probe, w...

journal_title：Genomics

authors： Lalioti MD,Gos A,Green MR,Rossier C,Morris MA,Antonarakis SE

更新日期：1996-04-15 00:00:00

abstract：:The gene coding for the alpha 5 chian of type IV collagen (alpha 5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this g...

journal_title：Genomics

authors： Boye E,Vetrie D,Flinter F,Buckle B,Pihlajaniemi T,Hamalainen ER,Myers JC,Bobrow M,Harris A

更新日期：1991-12-01 00:00:00

abstract：:A wide range of autoimmune and other diseases are known to be associated with the major histocompatibility complex. Many of these diseases are linked to the genes encoding the polymorphic histocompatibility antigens in the class I and class II regions, but some appear to be more strongly associated with genes in the c...

journal_title：Genomics

authors： Albertella MR,Jones H,Thomson W,Olavesen MG,Campbell RD

更新日期：1996-09-01 00:00:00

abstract：:We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Wheeler GN,Parker AE,Buxton RS

更新日期：1991-07-01 00:00:00

abstract：:The imprinted mouse H19 gene exhibits maternal allele-specific expression and paternal allele-specific hypermethylation. We previously demonstrated that a 14-kb H19 minitransgene possessing 5' differentially methylated sequence recapitulates the endogenous H19 imprinting pattern when present as high-copy arrays. To in...

journal_title：Genomics

authors： Cranston MJ,Spinka TL,Elson DA,Bartolomei MS

更新日期：2001-04-01 00:00:00

abstract：:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...

journal_title：Genomics

authors： Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJ

更新日期：1993-11-01 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analys...

journal_title：Genomics

authors： Valero MC,de Luis O,Cruces J,Pérez Jurado LA

更新日期：2000-10-01 00:00:00

abstract：:The myotonic dystrophy (DM) region has been recently shown to be bracketed by two key recombinant events. One recombinant occurs in a Dutch DM family, which maps the DM locus distal to the ERCC1 gene and D19S115 (pE0.8). The other recombinant event is in a French Canadian DM family, which maps DM proximal to D19S51 (p...

journal_title：Genomics

authors： Shutler G,Korneluk RG,Tsilfidis C,Mahadevan M,Bailly J,Smeets H,Jansen G,Wieringa B,Lohman F,Aslanidis C

更新日期：1992-07-01 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 somatic cell hybrid panel, consisting of 25 cell lines, has been developed to localize loci subregionally on chromosome 22. Over 300 markers in the form of STSs or hybridization probes have been assigned to one of 24 unique regions or "bins" using this panel. This ordered collection of markers will aid in the assemb...

journal_title：Genomics

authors： Budarf ML,Eckman B,Michaud D,McDonald T,Gavigan S,Buetow KH,Tatsumura Y,Liu Z,Hilliard C,Driscoll D,Goldmuntz E,Meese E,Zwarthoff EC,Williams S,McDermid H,Dumanski JP,Biegel J,Bell CJ,Emanuel BS

更新日期：1996-07-15 00:00:00

abstract：:The Kruppel-like factors (KLFs) belong to the family of zinc finger-containing transcription factors that regulates a diverse array of cellular processes, including cell proliferation, differentiation, and apoptosis. Here we reported the structure, mapping and phylogenetic analysis of KLF gene family in pigs. Comparat...

journal_title：Genomics

authors： Chen Z,Lei T,Chen X,Zhang J,Yu A,Long Q,Long H,Jin D,Gan L,Yang Z

更新日期：2010-02-01 00:00:00

abstract：:The Tcp-1 gene is located in the t-complex region of mouse chromosome 17 and on the long arm of human chromosome 6. In the mouse, a related gene, Tcp-1x, is tightly linked to Tcp-1. It is shown here that two genes located 3' to the murine Tcp-1 and Tcp-1x genes code for proteins highly homologous to acetyl-CoA acetylt...

journal_title：Genomics

authors： Ashworth A

更新日期：1993-11-01 00:00:00

abstract：:To identify genetic determinants relevant to non-insulin-dependent diabetes mellitus (NIDDM), we performed a genome-wide analysis for quantitative trait loci (QTLs) using 359 backcross progeny of the Otsuka Long-Evans Tokushima Fatty (OLETF) rat. The OLETF strain is a well-studied animal model of obese NIDDM, with fea...

journal_title：Genomics

authors： Watanabe TK,Okuno S,Oga K,Mizoguchi-Miyakita A,Tsuji A,Yamasaki Y,Hishigaki H,Kanemoto N,Takagi T,Takahashi E,Irie Y,Nakamura Y,Tanigami A

更新日期：1999-06-15 00:00:00

abstract：:Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific ...

journal_title：Genomics

authors： Morris CP,Guo XH,Apostolou S,Hopwood JJ,Scott HS

更新日期：1994-08-01 00:00:00

abstract：:Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 58...

journal_title：Genomics

authors： Schriner JE,Yi W,Hofmann SL

更新日期：1996-06-15 00:00:00

abstract：:The intercellular adhesion molecules ICAM1 and ICAM2 are the cell-surface ligands for the lymphocyte function-associated antigen LFA-1 (CD11a/CD18) and are thought to mediate cell-cell adhesion interactions required by the immune system. However, differences in tissue distribution, inducibility of expression, and over...

journal_title：Genomics

authors： Sansom D,Borrow J,Solomon E,Trowsdale J

更新日期：1991-10-01 00:00:00

abstract：:The Duchenne muscular dystrophy locus is remarkable in that it shows a high mutation rate and the majority of mutations found are deletions. These deletions are generated as meiotic as well as mitotic events and occur preferentially in the central region of the gene. Nothing is known so far about the mechanisms involv...

journal_title：Genomics

authors： Love DR,England SB,Speer A,Marsden RF,Bloomfield JF,Roche AL,Cross GS,Mountford RC,Smith TJ,Davies KE

更新日期：1991-05-01 00:00:00

abstract：:Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC 1.1.1.21) (AR) catalyzes the reduction of several aldehydes, including that of glucose, to the corresponding sugar alcohol. Using a complementary DNA clone encoding human AR, we mapped the gene sequences to human chromosomes 1, 3, 7, 9, 11, 13, 14, and 18 by somat...

journal_title：Genomics

authors： Bateman JB,Kojis T,Heinzmann C,Klisak I,Diep A,Carper D,Nishimura C,Mohandas T,Sparkes RS

更新日期：1993-09-01 00:00:00

abstract：:The mouse gene encoding glial high-affinity, Na+-dependent glutamate transporter Slc1a3 (GluT-1/GLAST) was isolated, and its structural organization was characterized. The gene appeared to exist as a single copy in the mouse genome and comprised 10 exons spanning more than 56 kilobases. The transcription initiation si...

journal_title：Genomics

authors： Hagiwara T,Tanaka K,Takai S,Maeno-Hikichi Y,Mukainaka Y,Wada K

更新日期：1996-05-01 00:00:00

abstract：:We present evidence of linkage between markers on chromosome 12 and asthma using the BETA program for nonparametric single- and multipoint linkage analysis. We have used quantitative scores as our phenotypic variables, combining data into indices for asthma and atopy and maximizing heritability. The largest single-loc...

journal_title：Genomics

authors： Wilkinson J,Grimley S,Collins A,Thomas NS,Holgate ST,Morton N

更新日期：1998-11-01 00:00:00