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Wyszukujesz frazę ""Chromosomes, Human, Pair 1"" wg kryterium: Temat


Wyświetlanie 1-10 z 10
Tytuł:
Contribution of the IL-2 and IL-10 genes to inflammatory bowel disease (IBD) susceptibility.
Autorzy:
Parkes M; The Wellcome Trust Centre for Human Genetics, Oxford, UK.
Satsangi J
Jewell D
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Źródło:
Clinical and experimental immunology [Clin Exp Immunol] 1998 Jul; Vol. 113 (1), pp. 28-32.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 4*
Inflammatory Bowel Diseases/*genetics
Interleukin-10/*genetics
Interleukin-2/*genetics
Alleles ; Colitis, Ulcerative/genetics ; Crohn Disease/genetics ; Disease Susceptibility ; Genetic Linkage ; Genotype ; Humans ; Inflammatory Bowel Diseases/immunology ; Microsatellite Repeats
Czasopismo naukowe
Tytuł:
Scalable linkage-disequilibrium-based selective sweep detection: a performance guide.
Autorzy:
Alachiotis N; Department of Electrical and Computer Engineering, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, 15213 PA USA.
Pavlidis P; Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology-Hellas, Crete, 70013 Greece.
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Źródło:
GigaScience [Gigascience] 2016 Feb 08; Vol. 5, pp. 7. Date of Electronic Publication: 2016 Feb 08 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Algorithms*
Linkage Disequilibrium*
Selection, Genetic*
Computational Biology/*methods
Alleles ; Chromosomes, Human, Pair 1/genetics ; Computer Simulation ; Gene Frequency ; Genetics, Population/methods ; Genome, Human/genetics ; Genotype ; Humans ; Models, Genetic ; Mutation ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł:
Altered expression of signalling lymphocyte activation molecule (SLAM) family receptors CS1 (CD319) and 2B4 (CD244) in patients with systemic lupus erythematosus.
Autorzy:
Kim JR; Department of Molecular Biology and Immunology and Institute for Cancer Research, University of North Texas Health Science Center, Fort Worth, TX 76107-2699, USA.
Mathew SO
Patel RK
Pertusi RM
Mathew PA
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Źródło:
Clinical and experimental immunology [Clin Exp Immunol] 2010 Jun; Vol. 160 (3), pp. 348-58. Date of Electronic Publication: 2010 Mar 16.
Typ publikacji:
Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Alternative Splicing/*immunology
Antigens, CD/*immunology
Leukocytes, Mononuclear/*immunology
Lupus Erythematosus, Systemic/*immunology
Receptors, Immunologic/*immunology
Signal Transduction/*immunology
Adult ; Aged ; Aged, 80 and over ; Antigens, CD/biosynthesis ; Autocrine Communication/immunology ; Case-Control Studies ; Cell Proliferation ; Chromosomes, Human, Pair 1/immunology ; Chromosomes, Human, Pair 1/metabolism ; Cytokines/immunology ; Cytokines/metabolism ; Female ; Flow Cytometry ; Humans ; Leukocytes, Mononuclear/metabolism ; Leukocytes, Mononuclear/pathology ; Lupus Erythematosus, Systemic/metabolism ; Lupus Erythematosus, Systemic/pathology ; Male ; Middle Aged ; Receptors, Immunologic/biosynthesis ; Signaling Lymphocytic Activation Molecule Family
Czasopismo naukowe
Tytuł:
Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients.
Autorzy:
Chen JY; Department of Medicine, Division of Allergy, Immunology and Rheumatology, Chang Gung Memorial Hospital, Taiwan, Republic of China. />Wang CM
Lu SC
Chou YH
Luo SF
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Źródło:
Clinical and experimental immunology [Clin Exp Immunol] 2006 Feb; Vol. 143 (2), pp. 281-7.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Apoptosis/*genetics
Chromosomes, Human, Pair 1/*genetics
Lupus Erythematosus, Systemic/*genetics
Polymorphism, Genetic/*genetics
Adolescent ; Adult ; Aged ; Child ; Dinucleotide Repeats/genetics ; Fas Ligand Protein ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Interleukin-10/genetics ; Ligands ; Male ; Membrane Glycoproteins/genetics ; Middle Aged ; Poly(ADP-ribose) Polymerases/genetics ; Tumor Necrosis Factors/genetics
Czasopismo naukowe
Tytuł:
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.
Autorzy:
Fassihi H; Genetic Skin Disease Group, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals Medical School London, London, UK.
Wessagowit V
Ashton GH
Moss C
Ward R
Denyer J
Mellerio JE
McGrath JA
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2005 Jan; Vol. 30 (1), pp. 71-4.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 1/*genetics
Epidermolysis Bullosa, Junctional/*genetics
Uniparental Disomy/*genetics
Chromosome Mapping ; Female ; Genetic Counseling ; Heterozygote ; Homozygote ; Humans ; Infant
Czasopismo naukowe
Tytuł:
Molecular basis of lipoid proteinosis in a Libyan family.
Autorzy:
Chan I; Genetic Skin Disease Group, Division of Skin Sciences, The Guy's, King's College and St Thomas' Hospitals' Medical School, London UK.
El-Zurghany A
Zendah B
Benghazil M
Oyama N
Hamada T
McGrath JA
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2003 Sep; Vol. 28 (5), pp. 545-8.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosomes, Human, Pair 1/*genetics
Codon, Nonsense/*genetics
Extracellular Matrix Proteins/*genetics
Lipoid Proteinosis of Urbach and Wiethe/*genetics
Child ; Chromosome Mapping ; Consanguinity ; DNA Mutational Analysis ; Exons/genetics ; Humans ; Libya ; Male ; Pedigree
Czasopismo naukowe
Tytuł:
Type 1 segmental cutaneous leiomyomatosis.
Autorzy:
Lang K; Department of Dermatology, Heinrich-Heine-University, Düsseldorf, Germany.
Reifenberger J
Ruzicka T
Megahed M
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2002 Nov; Vol. 27 (8), pp. 649-50.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Leiomyomatosis/*pathology
Skin Neoplasms/*pathology
Adult ; Chromosomes, Human, Pair 1/genetics ; Female ; Humans ; Leiomyomatosis/genetics ; Mutation/genetics ; Skin Neoplasms/genetics
Czasopismo naukowe
Tytuł:
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Autorzy:
Frank J; Department of Dermatology, Columbia University, New York, New York 10032, USA.
McGrath JA
Poh-Fitzpatrick MB
Hawk JL
Christiano AM
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 1999 Jul; Vol. 24 (4), pp. 296-301.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Oxidoreductases Acting on CH-CH Group Donors*
Codon, Initiator/*genetics
Mutation, Missense/*genetics
Oxidoreductases/*genetics
Porphyrias, Hepatic/*enzymology
Porphyrins/*genetics
Protein Biosynthesis/*genetics
Adenosine/genetics ; Adult ; Chromosomes, Human, Pair 1/genetics ; Cytosine ; Female ; Flavoproteins ; Humans ; Leucine/genetics ; Male ; Methionine/genetics ; Middle Aged ; Mitochondrial Proteins ; Nucleic Acid Heteroduplexes/genetics ; Point Mutation/genetics ; Porphyrias, Hepatic/genetics ; Protoporphyrinogen Oxidase ; RNA, Messenger/genetics ; Threonine/genetics ; Thymine
Czasopismo naukowe
Tytuł:
Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter.
Autorzy:
Ishida N; The Tokyo Metropolitan Institute of Medical Science, Bunkyo-ku, Tokyo, 113-8613, Japan.
Yoshioka S
Chiba Y
Takeuchi M
Kawakita M
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Źródło:
Journal of biochemistry [J Biochem] 1999 Jul; Vol. 126 (1), pp. 68-77.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Membrane Transport Proteins*
Carrier Proteins/*genetics
Carrier Proteins/*metabolism
Golgi Apparatus/*metabolism
Uridine Diphosphate N-Acetylglucosamine/*metabolism
Amino Acid Sequence ; Animals ; Base Sequence ; Biological Transport ; Blotting, Northern ; CHO Cells/metabolism ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; Cloning, Molecular ; Cricetinae ; Humans ; Molecular Sequence Data ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Sequence Homology, Amino Acid ; Subcellular Fractions
Czasopismo naukowe
Tytuł:
Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues.
Autorzy:
Lee Y; Molecular and Cellular Biology Research Division, Korea Research Institute of Bioscience and Biotechnology, Taejon.
Kim JW
Lee SM
Kim HJ
Lee KS
Park C
Choe IS
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Źródło:
Journal of biochemistry [J Biochem] 1998 Jan; Vol. 123 (1), pp. 47-54.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenylate Kinase/*genetics
Isoenzymes/*genetics
Adenylate Kinase/biosynthesis ; Adenylate Kinase/isolation & purification ; Adenylate Kinase/metabolism ; Amino Acid Sequence ; Animals ; Base Sequence ; Cattle ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 2 ; Chromosomes, Human, Pair 9 ; Cloning, Molecular ; DNA ; Enzyme Activation ; Gene Expression ; Humans ; Isoenzymes/biosynthesis ; Isoenzymes/isolation & purification ; Isoenzymes/metabolism ; Molecular Sequence Data ; Muscle, Skeletal/enzymology ; Myocardium/enzymology ; RNA, Messenger/metabolism ; Recombinant Proteins/biosynthesis ; Recombinant Proteins/genetics ; Recombinant Proteins/isolation & purification
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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