MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis.

abstract：:Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is p...

journal_title：Genomics

authors： Goldstein O,Kukekova AV,Aguirre GD,Acland GM

更新日期：2010-12-01 00:00:00

abstract：:Most parasitic flatworms go through different life stages with important physiological and morphological changes. In this work, we used a transcriptomic approach to analyze the main life-stages of the model tapeworm Hymenolepis microstoma (eggs, cysticercoids, and adults). Our results showed massive transcriptomic cha...

journal_title：Genomics

authors： Preza M,Calvelo J,Langleib M,Hoffmann F,Castillo E,Koziol U,Iriarte A

更新日期：2021-01-21 00:00:00

abstract：:Hematopoietic cell phosphatase (Hcph) was identified by amplification of conserved protein tyrosine phosphatase sequences from a myeloid cell line and is predominantly expressed in hematopoietic cells. Hcph is unique in containing two, tandemly repeated, src-homology 2 domains in the amino terminal region of the phosp...

journal_title：Genomics

authors： Yi T,Gilbert DJ,Jenkins NA,Copeland NG,Ihle JN

更新日期：1992-11-01 00:00:00

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...

journal_title：Genomics

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

abstract：:The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP. A computer homology search allow...

journal_title：Genomics

authors： Campion D,Martin C,Heilig R,Charbonnier F,Moreau V,Flaman JM,Petit JL,Hannequin D,Brice A,Frebourg T

更新日期：1995-03-20 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：:The genes for type XIII collagen (COL13A1) and prolyl 4-hydroxylase (P4HA) were previously assigned to human chromosome 10q by radioactive in situ hybridization. Here we have applied fluorescence in situ hybridization combined with targets representing different levels of resolution to determine, first, the order of t...

journal_title：Genomics

authors： Horelli-Kuitunen N,Kvist AP,Helaakoski T,Kivirikko K,Pihlajaniemi T,Palotie A

更新日期：1997-12-01 00:00:00

abstract：:The retina and its adjacent supporting tissues - retinal pigmented epithelium (RPE) and choroid - are critical structures in human eyes required for normal visual perception. Abnormal changes in these layers have been implicated in diseases such as age-related macular degeneration and glaucoma. With the advent of high...

journal_title：Genomics

authors： Tian L,Kazmierkiewicz KL,Bowman AS,Li M,Curcio CA,Stambolian DE

更新日期：2015-05-01 00:00:00

abstract：:Despite the increasing number of disorders known to result from trinucleotide repeat amplification, the molecular mechanism underlying these dynamic mutations is still unknown. In an attempt to create a mouse model for the CGG repeat instability seen in Fragile X syndrome, we constructed transgenes corresponding to FM...

journal_title：Genomics

authors： Lavedan C,Grabczyk E,Usdin K,Nussbaum RL

更新日期：1998-06-01 00:00:00

abstract：:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...

journal_title：Genomics

authors： Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

更新日期：1989-04-01 00:00:00

abstract：:G. Chimini et al. (1989, Genomics 5: 316-324) have recently reported that the two multilocus DNA fingerprinting probes 33.6 and 33.15 each detect a single major site in the human genome, at 1q23 and 7q35-q36, respectively, and speculate that these sites represent particularly large loci homologous to these probes. How...

journal_title：Genomics

authors： Jeffreys AJ,MacLeod A,Neumann R,Povey S,Royle NJ

更新日期：1990-07-01 00:00:00

abstract：:A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease. The sizes of the polymorphic fragments were 1.70 and 1.75 kb and the disease was found to segregate with the 1.70-kb fragment in 32 meioses. Only the 1.75-kb fragment was detected in fami...

journal_title：Genomics

authors： Dahl N,Erikson A,Hammarström-Heeroma K,Pettersson U

更新日期：1988-11-01 00:00:00

abstract：:Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the development of bilateral vestibular schwannomas and meningiomas, which together represent 30% of primary brain tumors. The NF2 gene, which has recently been isolated, maps to the long arm of human chromosome 22. Using recombinant inb...

journal_title：Genomics

authors： Claudio JO,Malo D,Rouleau GA

更新日期：1994-05-15 00:00:00

abstract：:Fragrance is an important component of end-use quality in rice. A set of 516 fragrant rice accessions were genotyped and over 80% of them carried the badh2.7 allele. A subset of 144 mostly fragrant accessions, including nine of Oryza rufipogon, was then subjected to a detailed diversity and haplotype analysis. The lev...

journal_title：Genomics

authors： Shao G,Tang S,Chen M,Wei X,He J,Luo J,Jiao G,Hu Y,Xie L,Hu P

更新日期：2013-02-01 00:00:00

abstract：:The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/ myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon...

journal_title：Genomics

authors： Mallee JJ,Atta MG,Lorica V,Rim JS,Kwon HM,Lucente AD,Wang Y,Berry GT

更新日期：1997-12-15 00:00:00

abstract：:We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

journal_title：Genomics

authors： Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

更新日期：1999-04-01 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：:The regional assignments of 30 expressed sequence tags (ESTs) on human chromosome 7 were determined by studying the segregation of their PCR-amplified products in a panel of mouse somatic cell hybrids. ESTs are important molecular landmarks for physical mapping and can be considered as tags to candidate genes for gene...

journal_title：Genomics

authors： Patel RJ,Keen TJ,Grzeschik KH,Nierman WC,Hayes P,Bhattacharya SS,Inglehearn CF

更新日期：1995-11-01 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：:DNA methylation is a potential epigenetic mechanism that regulates genome stability, development, and stress mitigation in plants. It is mediated by cytosine-5 DNA methyltransferases (C5-MTases). We identified 52 wheat C5-MTases; and based on domain structure and phylogenetics, these 52 C5-MTases were classified into ...

journal_title：Genomics

authors： Gahlaut V,Samtani H,Khurana P

更新日期：2020-11-01 00:00:00

abstract：:The ability to utilize formalin-fixed, paraffin-embedded (FFPE) archival specimens reliably for high-resolution molecular genetic analysis would be of immense practical application in the study of human disease. We have evaluated the ability of the GenomePlex whole genome amplification (WGA) kit to amplify frozen and ...

journal_title：Genomics

authors： Little SE,Vuononvirta R,Reis-Filho JS,Natrajan R,Iravani M,Fenwick K,Mackay A,Ashworth A,Pritchard-Jones K,Jones C

更新日期：2006-02-01 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：:Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and w...

journal_title：Genomics

authors： Meurs KM,Norgard MM,Ederer MM,Hendrix KP,Kittleson MD

更新日期：2007-08-01 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：:Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the sy...

journal_title：Genomics

authors： Goodart SA,Simmons AD,Grady D,Rojas K,Moyzis RK,Lovett M,Overhauser J

更新日期：1994-11-01 00:00:00

abstract：:We have characterized 117 cDNAs isolated by direct cDNA selection using pools of human chromosome 12p cosmids. Sequencing revealed that 41 clones did overlap with other cDNAs. Of the remaining 76 cDNA sequences, 11 matched previously identified human chromosome 12p genes and 3 matched previously determined cDNA sequen...

journal_title：Genomics

authors： Baens M,Aerssens J,van Zand K,Van den Berghe H,Marynen P

更新日期：1995-09-01 00:00:00

abstract：:Nematodes are responsible for causing severe diseases in plants, humans and other animals. Infection is associated with the release of Excretory/Secretory (ES) proteins into host cytoplasm and interference with the host immune system which make them attractive targets for therapeutic use. The identification of ES prot...

journal_title：Genomics

authors： Gahoi S,Singh S,Gautam B

更新日期：2019-05-01 00:00:00

abstract：:We completed a systematic survey of the human genome, conducted at an average resolution of 10 cM, for the identification of simple sequence tandem repeat polymorphisms (SSTRPs) that target new risk genes for Alzheimer disease (AD) by virtue of linkage disequilibrium. The efficiency of our association study was enhanc...

journal_title：Genomics

authors： Zubenko GS,Hughes HB,Stiffler JS,Hurtt MR,Kaplan BB

更新日期：1998-06-01 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：:The gene encoding the brain alpha 2-adrenergic receptor (ADRA2C) is located on human chromosome 4. It has been circumstantially associated with a number of human disorders, including Parkinson disease, panic disorders, and Huntington disease (HD). Using somatic cell hybrids, we localized the gene to chromosome 4p16 di...

journal_title：Genomics

authors： Riess O,Thies U,Siedlaczck I,Potisek S,Graham R,Theilmann J,Grimm T,Epplen JT,Hayden MR

更新日期：1994-01-15 00:00:00