Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.


:Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, and DXS374 with maximum lod scores at theta = 0 of 5.08, 5.19, 5.00, 5.03, and 4.46, respectively. Multipoint linkage analysis gives a maximum multipoint lod score of 6.75 at the F8C gene. This places the disease gene in chromosomal region Xq27.3-qter.






Gregg RG,Metzenberg AB,Hogan K,Sekhon G,Laxova R




Has Abstract


1991-04-01 00:00:00














  • Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

    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...


    pub_type: 杂志文章


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

    更新日期:1994-07-15 00:00:00

  • Characterization of the genomic structure of the mouse APLP1 gene.

    abstract::Amyloid beta protein (beta A4), the major component of the core of amyloid plaques in Alzheimer disease, is derived from the transmembrane amyloid precursor proteins (APPs). Our recent studies showed that a murine member of the evolutionarily conserved APP family, amyloid precursor-like protein 1 (APLP1), is specifica...


    pub_type: 杂志文章


    authors: Zhong S,Wu K,Black IB,Schaar DG

    更新日期:1996-02-15 00:00:00

  • cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis.

    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...


    pub_type: 杂志文章


    authors: Schriner JE,Yi W,Hofmann SL

    更新日期:1996-06-15 00:00:00

  • Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25.

    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 ...


    pub_type: 杂志文章


    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

  • Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).

    abstract::Overlapping DNA fragments spanning approximately 21 kb of genomic DNA and encompassing the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) have been cloned by screening a human leukocyte genomic library and by PCR amplification of human fibroblastic DNA. A continuous gene sequence of 20,890 nucleotides was establ...


    pub_type: 杂志文章


    authors: Rüetschi U,Rymo L,Lindstedt S

    更新日期:1997-09-15 00:00:00

  • Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.

    abstract::We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initiative (ADNI) sample (146 with AD, 313 with Mild Cognitive Impairment (MCI), and 181 controls). Comparison of single CNVs between cases (MCI and AD) and controls shows overrepresentation of large heterozygous deletion...


    pub_type: 杂志文章


    authors: Guffanti G,Torri F,Rasmussen J,Clark AP,Lakatos A,Turner JA,Fallon JH,Saykin AJ,Weiner M,ADNI the Alzheimer's Disease Neuroimaging Initiative.,Vawter MP,Knowles JA,Potkin SG,Macciardi F

    更新日期:2013-08-01 00:00:00

  • Database and analyses of known alternatively spliced genes in plants.

    abstract::Alternative splicing is an important cellular mechanism that increases the diversity of gene products. The number of alternatively spliced genes reported so far in plants is much smaller than that in mammals, but is increasing as a result of the explosive growth of available EST and genomic sequences. We have searched...


    pub_type: 杂志文章


    authors: Zhou Y,Zhou C,Ye L,Dong J,Xu H,Cai L,Zhang L,Wei L

    更新日期:2003-12-01 00:00:00

  • A first comparative map of copy number variations in the sheep genome.

    abstract::We carried out a cross species cattle-sheep array comparative genome hybridization experiment to identify copy number variations (CNVs) in the sheep genome analysing ewes of Italian dairy or dual-purpose breeds (Bagnolese, Comisana, Laticauda, Massese, Sarda, and Valle del Belice) using a tiling oligonucleotide array ...


    pub_type: 杂志文章


    authors: Fontanesi L,Beretti F,Martelli PL,Colombo M,Dall'olio S,Occidente M,Portolano B,Casadio R,Matassino D,Russo V

    更新日期:2011-03-01 00:00:00

  • Comparative study on seasonal hair follicle cycling by analysis of the transcriptomes from cashmere and milk goats.

    abstract::Guard hair and cashmere undercoat are developed from primary and secondary hair follicle, respectively. Little is known about the gene expression differences between primary and secondary hair follicle cycling. In this study, we obtained RNA-seq data from cashmere and milk goats grown at four different seasons. We stu...


    pub_type: 杂志文章


    authors: Zhang Y,Wu K,Wang L,Wang Z,Han W,Chen D,Wei Y,Su R,Wang R,Liu Z,Zhao Y,Wang Z,Zhan L,Zhang Y,Li J

    更新日期:2020-01-01 00:00:00

  • Synteny mapping in the bovine: genes from human chromosome 4.

    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...


    pub_type: 杂志文章


    authors: Zhang N,Threadgill DW,Womack JE

    更新日期:1992-09-01 00:00:00

  • Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human.

    abstract::The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rode...


    pub_type: 杂志文章


    authors: Mbikay M,Seidah NG,Chrétien M,Simpson EM

    更新日期:1995-03-01 00:00:00

  • Identification and partial characterization of a candidate gene for X-linked retinopathies using a lateral approach.

    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...


    pub_type: 杂志文章


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

    更新日期:1993-03-01 00:00:00

  • Cytological characterization of the tandem repetitive sequences and their methylation status in the Antirrhinum majus genome.

    abstract::Tandem repetitive sequences are DNA motifs common in the genomes of eukaryotic species and are often embedded in heterochromatic regions. In most eukaryotes, ribosomal genes, as well as centromeres and telomeres or subtelomeres, are associated with abundant tandem arrays of repetitive sequences and typically represent...


    pub_type: 杂志文章


    authors: Zhang D,Yang Q,Ding Y,Cao X,Xue Y,Cheng Z

    更新日期:2008-08-01 00:00:00

  • Bridging expressed sequence alignments through targeted cDNA sequencing.

    abstract::One of the major challenges in genome research is the identification of the complete set of genes in a genome. Alignments of expressed sequences (RNA and EST) with genomic sequences have been used to characterize genes. However, the number of alignments far exceeds the likely number of genes in a genome, suggesting th...


    pub_type: 杂志文章


    authors: Xie H,Diber A,Pollock S,Nemzer S,Safer H,Meloon B,Olson A,Hwang JJ,Endress GA,Savitsky K,Gill-More R

    更新日期:2004-04-01 00:00:00

  • Minimum error calibration and normalization for genomic copy number analysis.

    abstract:BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...


    pub_type: 杂志文章


    authors: Gao B,Baudis M

    更新日期:2020-09-01 00:00:00

  • The generation of a library of PCR-analyzed microsatellite variants for genetic mapping of the mouse genome.

    abstract::Forty-three sequences containing simple sequence repeats or microsatellites were generated from an M13 library of total genomic mouse DNA. These sequences were analyzed for size variation using the polymerase chain reaction and gel electrophoresis without the need for radiolabeling. Seventy-two percent of the sequence...


    pub_type: 杂志文章


    authors: Cornall RJ,Aitman TJ,Hearne CM,Todd JA

    更新日期:1991-08-01 00:00:00

  • A genetic map of mouse chromosome 1 near the Lsh-Ity-Bcg disease resistance locus.

    abstract::Isozyme and restriction fragment length polymorphism (RFLP) analyses of backcross progeny, recombinant inbred strains, and congenic strains of mice positioned eight genetic markers with respect to the Lsh-Ity-Bcg disease resistance locus. Allelic isoforms of Idh-1 and Pep-3 and RFLPs detected by Southern hybridization...


    pub_type: 杂志文章


    authors: Mock B,Krall M,Blackwell J,O'Brien A,Schurr E,Gros P,Skamene E,Potter M

    更新日期:1990-05-01 00:00:00

  • Genomic structure and mapping of the chromosomal gene for transcobalamin I (TCN1): comparison to human intrinsic factor.

    abstract::Transcobalamin I (TCI) is a vitamin B12 binding protein that is found in the secondary granules of mature neutrophils. The expression of the gene for TCI (TCN1) within neutrophils has been shown to be restricted to the later stages of myeloid development and can therefore be used as a marker for granulocyte differenti...


    pub_type: 杂志文章


    authors: Johnston J,Yang-Feng T,Berliner N

    更新日期:1992-03-01 00:00:00

  • Structure, chromosomal locus, and promoter of mouse Hes2 gene, a homologue of Drosophila hairy and Enhancer of split.

    abstract::Hes2 encodes a mammalian basic helix-loop-helix transcriptional repressor homologous to the products of Drosophila hairy and Enhancer of split. Here, we isolated and characterized the mouse Hes2 gene. This gene consists of four exons, and all the introns are located within the protein-coding region at positions homolo...


    pub_type: 杂志文章


    authors: Nishimura M,Isaka F,Ishibashi M,Tomita K,Tsuda H,Nakanishi S,Kageyama R

    更新日期:1998-04-01 00:00:00

  • Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

    abstract::Retinitis pigmentosa (RP) is a heterogeneous genetic disorder with autosomal dominant, autosomal recessive, and X-linked forms. We previously mapped an additional arRP locus to chromosome 6p21 (RP14) in a single extended kinship from the Dominican Republic. Aided by a second linked RP pedigree from the same region of ...


    pub_type: 杂志文章


    authors: Banerjee P,Lewis CA,Kleyn PW,Shugart YY,Ross BM,Penchaszadeh GK,Ott J,Jacobson SG,Gilliam TC,Knowles JA

    更新日期:1998-03-01 00:00:00

  • Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction.

    abstract::A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...


    pub_type: 杂志文章


    authors: Ledbetter SA,Nelson DL,Warren ST,Ledbetter DH

    更新日期:1990-03-01 00:00:00

  • Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).

    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...


    pub_type: 杂志文章


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

    更新日期:1991-07-01 00:00:00

  • A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma.

    abstract::We have analyzed a dense set of single-nucleotide polymorphisms (SNPs) and microsatellites spanning the T-helper cytokine gene cluster (interleukins 3, 4, 5, 9, and 13, interferon regulatory factor-1, colony-stimulating factor-2, and T-cell transcription factor-7) on 5q31 and the gene encoding the interleukin-4 recept...


    pub_type: 杂志文章


    authors: Kauppi P,Lindblad-Toh K,Sevon P,Toivonen HT,Rioux JD,Villapakkam A,Laitinen LA,Hudson TJ,Kere J,Laitinen T

    更新日期:2001-09-01 00:00:00

  • Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method.

    abstract::Using the differential display technique, we isolated a cDNA clone encoding the human homolog of rat perilipin, a unique protein associated with intracellular neutral lipid droplets in adipocytes and steroidogenic cells. The full cDNA contains an open reading frame of 1566 nucleotides encoding 522 amino acids and bear...


    pub_type: 杂志文章


    authors: Nishiu J,Tanaka T,Nakamura Y

    更新日期:1998-03-01 00:00:00

  • High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays.

    abstract::Current microarray technology allows researchers to genotype a large number of SNPs with relatively small amounts of DNA. Nevertheless, researchers and clinicians still frequently face the problem of acquiring enough high-quality DNA for analysis. Whole-genome amplification (WGA) methods offer a solution for this prob...


    pub_type: 杂志文章


    authors: Xing J,Watkins WS,Zhang Y,Witherspoon DJ,Jorde LB

    更新日期:2008-12-01 00:00:00

  • Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

    abstract::The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding EL...


    pub_type: 杂志文章


    authors: Robinson WP,Waslynka J,Bernasconi F,Wang M,Clark S,Kotzot D,Schinzel A

    更新日期:1996-05-15 00:00:00

  • Correlation of serpin-protease expression by comparative analysis of real-time PCR profiling data.

    abstract::Imbalanced protease activity has long been recognized in the progression of disease states such as cancer and inflammation. Serpins, the largest family of endogenous protease inhibitors, target a wide variety of serine and cysteine proteases and play a role in a number of physiological and pathological states. The exp...


    pub_type: 杂志文章


    authors: Badola S,Spurling H,Robison K,Fedyk ER,Silverman GA,Strayle J,Kapeller R,Tsu CA

    更新日期:2006-08-01 00:00:00

  • Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.

    abstract::The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenes...


    pub_type: 杂志文章


    authors: Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

    更新日期:1997-05-15 00:00:00

  • Transcriptome sequencing of Chinese and Caucasian population identifies ethnic-associated differential transcript abundance of heterogeneous nuclear ribonucleoprotein K (hnRNPK).

    abstract::Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian ...


    pub_type: 杂志文章


    authors: Li JW,Lai KP,Ching AK,Chan TF

    更新日期:2014-01-01 00:00:00

  • Systems-level analysis identifies key regulators driving epileptogenesis in temporal lobe epilepsy.

    abstract::Temporal lobe epilepsy (TLE) is the most prevalent and often devastating form of epilepsy. The molecular mechanism underlying the development of TLE remains largely unclear, which hinders the discovery of effective antiepileptogenic drugs. Here we adopted a systems-level approach integrating transcriptomic profiles of...


    pub_type: 杂志文章


    authors: Fu Y,Wu Z,Guo Z,Chen L,Ma Y,Wang Z,Xiao W,Wang Y

    更新日期:2020-03-01 00:00:00