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Wyszukujesz frazę ""Missense"" wg kryterium: Temat


Tytuł :
Improved pathogenicity prediction for rare human missense variants.
Autorzy :
Wu Y; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Li R; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Sun S; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Weile J; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Roth FP; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Center for Cancer Systems Biology, Dana Farber Cancer Institute, Boston, MA 02215, USA; Canadian Institute for Advanced Research, Toronto, ON M5G 1Z8, Canada. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1891-1906. Date of Electronic Publication: 2021 Sep 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Algorithms*
Mutation, Missense*
Computational Biology/*standards
Disease/*etiology
Genetic Predisposition to Disease ; Humans ; Phenotype ; Precision Medicine ; Software
Czasopismo naukowe
Tytuł :
Evolutionary analysis of the Delta and Delta Plus variants of the SARS-CoV-2 viruses.
Autorzy :
Kannan SR; Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA.
Spratt AN; Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA.
Cohen AR; Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA.
Naqvi SH; Department of Medicine, University of Missouri, Columbia, MO, 65211, USA.
Chand HS; Department of Immunology and Nanomedicine, Florida International University, Miami, FL, USA.
Quinn TP; Department of Biochemistry, University of Missouri, Columbia, MO, 65211, USA.
Lorson CL; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, 65211, USA.
Byrareddy SN; Department of Pharmacology and Experimental Neuroscience, University of Nebraska Medical Center, Omaha, NE, 68131, USA; Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Stockholm, Sweden. Electronic address: .
Singh K; Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, 65211, USA; Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Stockholm, Sweden; Sanctum Therapeutics Corporation, Sunnyvale, CA, USA. Electronic address: .
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Źródło :
Journal of autoimmunity [J Autoimmun] 2021 Nov; Vol. 124, pp. 102715. Date of Electronic Publication: 2021 Aug 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Evolution, Molecular*
Mutation, Missense*
Phylogeny*
COVID-19/*genetics
SARS-CoV-2/*genetics
Amino Acid Substitution ; COVID-19/epidemiology ; COVID-19/transmission ; Humans ; Prevalence ; SARS-CoV-2/metabolism
SCR Organism :
SARS-CoV-2 variants
Czasopismo naukowe
Tytuł :
Characterization of the novel HLA-A*24:538 allele by sequencing-based typing.
Autorzy :
Cargou M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France.
Elsermans V; CHU de Lille, Institut d'Immunologie-HLA, Bd du Professeur Jules Leclercq, Lille, France.
Top I; CHU de Lille, Institut d'Immunologie-HLA, Bd du Professeur Jules Leclercq, Lille, France.
Ralazamahaleo M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France.
Visentin J; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France.; University of Bordeaux, CNRS, ImmunoConcEpT, UMR 5164, Bordeaux, France.
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Źródło :
HLA [HLA] 2021 Nov; Vol. 98 (5), pp. 473-474. Date of Electronic Publication: 2021 Aug 17.
Typ publikacji :
Journal Article
MeSH Terms :
HLA-A Antigens*/genetics
Mutation, Missense*
Alleles ; Codon ; Exons/genetics ; Histocompatibility Testing ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Autorzy :
Kaukonen M; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.
Pettinen IT; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.
Wickström K; Veterinary Clinic Kamu, Oulu, Finland.
Arumilli M; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.
Donner J; Genoscoper Laboratories Ltd (Wisdom Health), Helsinki, Finland.
Juhola IJ; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.
Holopainen S; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland.
Turunen JA; Folkhälsan Research Center, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
Yoshihara M; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
Kere J; Folkhälsan Research Center, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.; Stem Cells and Metabolism Research Program STEMM, University of Helsinki, 00014, Helsinki, Finland.
Lohi H; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland. .; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. .; Folkhälsan Research Center, Helsinki, Finland. .
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Źródło :
Human genetics [Hum Genet] 2021 Nov; Vol. 140 (11), pp. 1569-1579. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Journal Article
MeSH Terms :
Disease Models, Animal*
Mutation, Missense*
Adaptor Proteins, Signal Transducing/*genetics
Cytoskeletal Proteins/*genetics
Dog Diseases/*genetics
Retinal Degeneration/*veterinary
Retinitis Pigmentosa/*genetics
Animals ; Breeding ; Dogs ; Female ; Genes, Recessive ; Genome-Wide Association Study ; Humans ; Male ; Pedigree ; Photoreceptor Cells, Vertebrate/pathology ; Polymorphism, Single Nucleotide ; Retinal Degeneration/genetics ; Retinal Degeneration/pathology ; Transcriptome ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.
Autorzy :
Shaffer GD; Paw Print Genetics, Genetic Veterinary Sciences, Inc, 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.
Ballif BC; Paw Print Genetics, Genetic Veterinary Sciences, Inc, 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.
Meurs K; North Carolina State College of Veterinary Medicine, Raleigh, NC, USA.
Shaffer LG; Paw Print Genetics, Genetic Veterinary Sciences, Inc, 220 E Rowan, Suite 220, Spokane, WA, 99207, USA. .; Center for Reproductive Biology, Washington State University, Pullman, WA, USA. .
Flores-Smith H; Paw Print Genetics, Genetic Veterinary Sciences, Inc, 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.
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Źródło :
Human genetics [Hum Genet] 2021 Nov; Vol. 140 (11), pp. 1517-1523. Date of Electronic Publication: 2021 Oct 01.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Animal Fur/*anatomy & histology
Cats/*genetics
Fibroblast Growth Factor 5/*genetics
Animals ; Cats/anatomy & histology ; Female ; Fibroblast Growth Factor 5/chemistry ; Heterozygote ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.
Autorzy :
Hytönen MK; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
Niskanen JE; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
Arumilli M; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
Brookhart-Knox CA; Wisdom Health, Vancouver, WA, USA.
Donner J; Genoscoper Laboratories, Helsinki, Finland.
Lohi H; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. .; Folkhälsan Research Center, Helsinki, Finland. .; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland. .
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Źródło :
Human genetics [Hum Genet] 2021 Nov; Vol. 140 (11), pp. 1611-1618. Date of Electronic Publication: 2021 May 13.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Carrier Proteins/*genetics
Deafness/*veterinary
Dog Diseases/*genetics
Hearing Loss, Sensorineural/*veterinary
Amino Acid Substitution ; Animals ; Carrier Proteins/chemistry ; Deafness/genetics ; Dogs ; Female ; Gene Frequency ; Hearing Loss, Sensorineural/genetics ; Male
SCR Disease Name :
Nonsyndromic Deafness
Czasopismo naukowe
Tytuł :
Male hypogonadism caused by a homozygous missense mutation of the LHB gene.
Autorzy :
Chen J; Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Yi WT; Laboratory Medicine, Yantai Affiliated Hospital, Binzhou Medical University, Yantai, China.
Cui YQ; Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Wang WT; Central Laboratory, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Wang X; Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
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Źródło :
The Korean journal of internal medicine [Korean J Intern Med] 2021 Nov; Vol. 36 (6), pp. 1527-1529. Date of Electronic Publication: 2021 Oct 12.
Typ publikacji :
Journal Article
MeSH Terms :
Hypogonadism*/diagnosis
Hypogonadism*/genetics
Mutation, Missense*
Homozygote ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
The N93D mutation of the human T-cell leukemia virus type 1 envelope glycoprotein found in symptomatic patients enhances neuropilin-1 b1 domain binding.
Autorzy :
Kusunoki H; Department of Safety Research on Blood and Biological Products, National Institute of Infectious Diseases, 4-7-1 Gakuen, Musashimurayama, Tokyo 208-0011, Japan. Electronic address: .
Tanaka T; Graduate School of Life and Environmental Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8572, Japan; Life Science Center, Tsukuba Advanced Research Alliance, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8577, Japan.
Ohshima C; Department of Safety Research on Blood and Biological Products, National Institute of Infectious Diseases, 4-7-1 Gakuen, Musashimurayama, Tokyo 208-0011, Japan.
Sakamoto T; Department of Life Science, Faculty of Advanced Engineering, Chiba Institute of Technology, 2-17-1 Tsudanuma, Narashino, Chiba 275-0016, Japan.
Wakamatsu K; Department of Molecular Science, Graduate School of Science and Technology, Gunma University, 1-5-1 Tenjin-cho, Kiryu, Gunma 376-8515, Japan.
Hamaguchi I; Department of Safety Research on Blood and Biological Products, National Institute of Infectious Diseases, 4-7-1 Gakuen, Musashimurayama, Tokyo 208-0011, Japan.
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Źródło :
Biochimica et biophysica acta. Proteins and proteomics [Biochim Biophys Acta Proteins Proteom] 2021 Nov; Vol. 1869 (11), pp. 140708. Date of Electronic Publication: 2021 Jul 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
HTLV-I Infections/*virology
Human T-lymphotropic virus 1/*pathogenicity
Neuropilin-1/*metabolism
Viral Envelope Proteins/*metabolism
Binding Sites ; HTLV-I Infections/metabolism ; Human T-lymphotropic virus 1/isolation & purification ; Humans ; Neuropilin-1/chemistry ; Protein Binding ; Viral Envelope Proteins/chemistry ; Viral Envelope Proteins/genetics
Czasopismo naukowe
Tytuł :
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Autorzy :
Charfeddine C; University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory, LR20IPT05, Tunis, Tunisia.; Université de la Manouba, Institut de Biotechnologie de Sidi Thabet, Ariana, Tunisia.
Laroussi N; University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory, LR20IPT05, Tunis, Tunisia.
Mkaouar R; University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory, LR20IPT05, Tunis, Tunisia.
Jouini R; Department of Pathology, Habib Thameur Hospital, Tunis, Tunisia.
Khayat O; Department of Pathology, Habib Thameur Hospital, Tunis, Tunisia.
Redissi A; BVBGR-LR11ES31, ISBST, Université de la Manouba, Institut de Biotechnologie de Sidi Thabet, Ariana, Tunisia.
Mosbah A; BVBGR-LR11ES31, ISBST, Université de la Manouba, Institut de Biotechnologie de Sidi Thabet, Ariana, Tunisia.
Dallali H; University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory, LR20IPT05, Tunis, Tunisia.
Chedly Debbiche A; Department of Pathology, Habib Thameur Hospital, Tunis, Tunisia.
Zaouak A; Department of Dermatology, Genodermatosis and Cancers Laboratory LR12SP03, Habib Thameur Hospital, Tunis, Tunisia.
Fenniche S; Department of Dermatology, Genodermatosis and Cancers Laboratory LR12SP03, Habib Thameur Hospital, Tunis, Tunisia.
Abdelhak S; University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory, LR20IPT05, Tunis, Tunisia.
Hammami-Ghorbel H; Department of Dermatology, Genodermatosis and Cancers Laboratory LR12SP03, Habib Thameur Hospital, Tunis, Tunisia.
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Źródło :
PloS one [PLoS One] 2021 Oct 20; Vol. 16 (10), pp. e0258777. Date of Electronic Publication: 2021 Oct 20 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Erythrokeratodermia Variabilis/*genetics
Receptors, Cell Surface/*chemistry
Receptors, Cell Surface/*genetics
Whole Exome Sequencing/*methods
Child ; Connexins/genetics ; Consanguinity ; Female ; Humans ; Infant ; Molecular Docking Simulation ; Pedigree ; Phenotype ; Protein Stability ; Tunisia
Czasopismo naukowe
Tytuł :
Computational Analysis of Missense Variants in the Human Transmembrane Protease Serine 2 ( TMPRSS2 ) and SARS-CoV-2.
Autorzy :
Saih A; Virology Unit, Immunovirology Laboratory, Institut Pasteur du Maroc, 20360 Casablanca, Morocco.; Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik Hassan II University of Casablanca, Morocco.
Bouqdayr M; Virology Unit, Immunovirology Laboratory, Institut Pasteur du Maroc, 20360 Casablanca, Morocco.; Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik Hassan II University of Casablanca, Morocco.
Baba H; Virology Unit, Immunovirology Laboratory, Institut Pasteur du Maroc, 20360 Casablanca, Morocco.; Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik Hassan II University of Casablanca, Morocco.
Hamdi S; Environmental Health Laboratory, Institut Pasteur du Maroc, 20360 Casablanca, Morocco.
Moussamih S; Immunology and Biodiversity Laboratory, Faculty of Sciences Ain Chock, Hassan II University of Casablanca, Morocco.
Bennani H; Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik Hassan II University of Casablanca, Morocco.
Saile R; Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik Hassan II University of Casablanca, Morocco.
Wakrim L; Virology Unit, Immunovirology Laboratory, Institut Pasteur du Maroc, 20360 Casablanca, Morocco.
Kettani A; Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik Hassan II University of Casablanca, Morocco.
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Źródło :
BioMed research international [Biomed Res Int] 2021 Oct 19; Vol. 2021, pp. 9982729. Date of Electronic Publication: 2021 Oct 19 (Print Publication: 2021).
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
COVID-19/*genetics
Serine Endopeptidases/*chemistry
Serine Endopeptidases/*genetics
Binding Sites ; Computational Biology/methods ; Evolution, Molecular ; Genetic Predisposition to Disease ; Humans ; Models, Molecular ; Phylogeny ; Polymorphism, Single Nucleotide ; Protein Conformation ; Protein Stability ; Serine Endopeptidases/metabolism
Czasopismo naukowe
Tytuł :
Single-Molecule Force Spectroscopy Studies of Missense Titin Mutations That Are Likely Causing Cardiomyopathy.
Autorzy :
Zuo J; Department of Chemistry, University of British Columbia, Vancouver, BC V6T 1Z1, Canada.
Zhan D; Department of Chemistry, University of British Columbia, Vancouver, BC V6T 1Z1, Canada.
Xia J; Department of Chemistry, University of British Columbia, Vancouver, BC V6T 1Z1, Canada.
Li H; Department of Chemistry, University of British Columbia, Vancouver, BC V6T 1Z1, Canada.
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Źródło :
Langmuir : the ACS journal of surfaces and colloids [Langmuir] 2021 Oct 19; Vol. 37 (41), pp. 12128-12137. Date of Electronic Publication: 2021 Oct 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cardiomyopathies*/genetics
Connectin*/genetics
Mutation, Missense*
Elasticity ; Humans ; Microscopy, Atomic Force ; Muscle Proteins/genetics ; Spectrum Analysis
Czasopismo naukowe
Tytuł :
Functional Effects of Receptor-Binding Domain Mutations of SARS-CoV-2 B.1.351 and P.1 Variants.
Autorzy :
Bayarri-Olmos R; Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Jarlhelt I; Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Johnsen LB; Recombinant Technologies, Novo Nordisk A/S, Måløv, Denmark.
Hansen CB; Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Helgstrand C; Recombinant Technologies, Novo Nordisk A/S, Måløv, Denmark.
Rose Bjelke J; Recombinant Technologies, Novo Nordisk A/S, Måløv, Denmark.
Matthiesen F; Recombinant Technologies, Novo Nordisk A/S, Måløv, Denmark.
Nielsen SD; Department of Infectious Diseases, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Iversen KK; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Emergency Medicine, Herlev and Gentofte Hospital, Copenhagen, Denmark.
Ostrowski SR; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; The Blood Bank, Department of Clinical Immunology, Section 2034, Rigshospitalet, Copenhagen, Denmark.
Bundgaard H; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Cardiology, Rigshospitalet, Copenhagen, Denmark.
Frikke-Schmidt R; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark.
Garred P; Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Skjoedt MO; Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Institute of Immunology and Microbiology, University of Copenhagen, Copenhagen, Denmark.
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Źródło :
Frontiers in immunology [Front Immunol] 2021 Oct 07; Vol. 12, pp. 757197. Date of Electronic Publication: 2021 Oct 07 (Print Publication: 2021).
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
COVID-19 Vaccines*/administration & dosage
COVID-19 Vaccines*/immunology
Mutation, Missense*
SARS-CoV-2*/genetics
SARS-CoV-2*/immunology
Spike Glycoprotein, Coronavirus*/genetics
Spike Glycoprotein, Coronavirus*/immunology
Vaccination*
Angiotensin-Converting Enzyme 2/*immunology
Antibodies, Viral/*immunology
Adult ; Amino Acid Substitution ; Female ; Humans ; Male ; Protein Domains
SCR Organism :
SARS-CoV-2 variants
Czasopismo naukowe
Tytuł :
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Autorzy :
Qiao L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Xu L; Department of Pediatrics, University of California, San Diego Medical School, San Diego, CA 92093, USA.
Yu L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Hernan R; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Zhou X; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Farkouh-Karoleski C; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Krishnan US; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Khlevner J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
De A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Zygmunt A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Crombleholme T; Medical City Children's Hospital, Dallas, TX 75230, USA.
Lim FY; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Needelman H; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.
Cusick RA; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.
Mychaliska GB; University of Michigan Health System, Ann Arbor, MI 48109, USA.
Warner BW; Washington University School of Medicine, St. Louis, MO 63110, USA.
Wagner AJ; Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Danko ME; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
Chung D; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
Potoka D; University of Pittsburgh, Pittsburgh, PA 15224, USA.
Kosiński P; Medical University of Warsaw, 02-091 Warsaw, Poland.
McCulley DJ; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 52726, USA.
Elfiky M; Cairo University, Cairo 11432, Egypt.
Azarow K; Oregon Health & Science University, Portland, OR 97239, USA.
Fialkowski E; Oregon Health & Science University, Portland, OR 97239, USA.
Schindel D; UT Southwestern Medical Center, Dallas, TX 75390, USA.
Soffer SZ; Northwell Health, New York, NY 11040, USA.
Lyon JB; Department of Radiology, University of Wisconsin-Madison, Madison, WI 53792, USA.
Zalieckas JM; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.
Vardarajan BN; Department of Neurology, Taub Institute for Research on Alzheimer Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University, New York, NY 10032, USA.
Aspelund G; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Duron VP; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
High FA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.
Sun X; Department of Pediatrics, University of California, San Diego Medical School, San Diego, CA 92093, USA.
Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02115, USA.
Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY 10032, USA; JP Sulzberger Columbia Genome Center, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1964-1980. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
DNA Copy Number Variations*
Mutation, Missense*
ATP-Dependent Proteases/*genetics
ATP-Dependent Proteases/*physiology
Craniofacial Abnormalities/*genetics
Eye Abnormalities/*genetics
Growth Disorders/*genetics
Hernias, Diaphragmatic, Congenital/*genetics
Hip Dislocation, Congenital/*genetics
Mitochondrial Proteins/*genetics
Mitochondrial Proteins/*physiology
Osteochondrodysplasias/*genetics
Tooth Abnormalities/*genetics
Animals ; Case-Control Studies ; Cohort Studies ; Craniofacial Abnormalities/pathology ; Eye Abnormalities/pathology ; Female ; Growth Disorders/pathology ; Hernias, Diaphragmatic, Congenital/pathology ; Hip Dislocation, Congenital/pathology ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Osteochondrodysplasias/pathology ; Pedigree ; Tooth Abnormalities/pathology
SCR Disease Name :
CODAS syndrome
Czasopismo naukowe
Tytuł :
Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.
Autorzy :
Jin D; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Wek SA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis Indiana, USA.
Kudlapur NT; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Cantara WA; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Bakhtina M; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Wek RC; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis Indiana, USA.
Musier-Forsyth K; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA. Electronic address: .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2021 Oct; Vol. 297 (4), pp. 101203. Date of Electronic Publication: 2021 Sep 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Bone Diseases*/enzymology
Bone Diseases*/genetics
Diabetes Mellitus*/enzymology
Diabetes Mellitus*/genetics
Genetic Diseases, Inborn*/enzymology
Genetic Diseases, Inborn*/genetics
Glutamate-tRNA Ligase*/chemistry
Glutamate-tRNA Ligase*/genetics
Glutamate-tRNA Ligase*/metabolism
Mutation, Missense*
Stress, Physiological/*genetics
Amino Acid Substitution ; HEK293 Cells ; Humans ; Male
Czasopismo naukowe
Tytuł :
Structural and functional characterization explains loss of dNTPase activity of the cancer-specific R366C/H mutant SAMHD1 proteins.
Autorzy :
Bowen NE; Department of Pediatrics, School of Medicine, Emory University, Atlanta, Georgia, USA.
Temple J; Department of Molecular Biophysics and Biochemistry, School of Medicine, Yale University, New Haven, Connecticut, USA.
Shepard C; Department of Pediatrics, School of Medicine, Emory University, Atlanta, Georgia, USA.
Oo A; Department of Pediatrics, School of Medicine, Emory University, Atlanta, Georgia, USA.
Arizaga F; Department of Molecular Biophysics and Biochemistry, School of Medicine, Yale University, New Haven, Connecticut, USA.
Kapoor-Vazirani P; Department of Radiation Oncology, School of Medicine, Emory University, Atlanta, Georgia, USA.
Persaud M; Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, New York, USA.
Yu CH; Department of Biochemistry and Structural Biology, University of Texas Health San Antonio, San Antonio, Texas, USA.
Kim DH; School of Pharmacy, Kyung-Hee University, Seoul, South Korea.
Schinazi RF; Department of Pediatrics, School of Medicine, Emory University, Atlanta, Georgia, USA.
Ivanov DN; Department of Biochemistry and Structural Biology, University of Texas Health San Antonio, San Antonio, Texas, USA.
Diaz-Griffero F; Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, New York, USA.
Yu DS; Department of Radiation Oncology, School of Medicine, Emory University, Atlanta, Georgia, USA.
Xiong Y; Department of Molecular Biophysics and Biochemistry, School of Medicine, Yale University, New Haven, Connecticut, USA. Electronic address: .
Kim B; Department of Pediatrics, School of Medicine, Emory University, Atlanta, Georgia, USA; Children's Healthcare of Atlanta, Atlanta, Georgia, USA. Electronic address: .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2021 Oct; Vol. 297 (4), pp. 101170. Date of Electronic Publication: 2021 Sep 04.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Colonic Neoplasms*/enzymology
Colonic Neoplasms*/genetics
Leukemia*/enzymology
Leukemia*/genetics
Mutation, Missense*
Neoplasm Proteins*/chemistry
Neoplasm Proteins*/genetics
Neoplasm Proteins*/metabolism
SAM Domain and HD Domain-Containing Protein 1*/chemistry
SAM Domain and HD Domain-Containing Protein 1*/genetics
SAM Domain and HD Domain-Containing Protein 1*/metabolism
Amino Acid Substitution ; Cell Line ; Cyclin A2/chemistry ; Cyclin A2/genetics ; Cyclin A2/metabolism ; DNA Breaks, Double-Stranded ; DNA Repair ; Endodeoxyribonucleases/chemistry ; Endodeoxyribonucleases/genetics ; Endodeoxyribonucleases/metabolism ; Humans ; Structure-Activity Relationship
Czasopismo naukowe
Tytuł :
AAA+ ATPase p97/VCP mutants and inhibitor binding disrupt inter-domain coupling and subsequent allosteric activation.
Autorzy :
Caffrey B; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Zhu X; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Berezuk A; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Tuttle K; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Chittori S; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Subramaniam S; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2021 Oct; Vol. 297 (4), pp. 101187. Date of Electronic Publication: 2021 Sep 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Mutation, Missense*
Valosin Containing Protein/*chemistry
Allosteric Regulation ; Amino Acid Substitution ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/metabolism ; Cryoelectron Microscopy ; Humans ; Protein Domains ; Valosin Containing Protein/genetics ; Valosin Containing Protein/metabolism
SCR Disease Name :
Amyotrophic lateral sclerosis 1
Czasopismo naukowe
Tytuł :
Activity-dependent release of phosphorylated human tau from Drosophila neurons in primary culture.
Autorzy :
Ismael S; Neuroscience Program, Department of Biological Sciences, and Molecular and Cellular Biology Interdisciplinary Graduate Program, Ohio University, Athens, Ohio, USA.
Sindi G; Neuroscience Program, Department of Biological Sciences, and Molecular and Cellular Biology Interdisciplinary Graduate Program, Ohio University, Athens, Ohio, USA.
Colvin RA; Neuroscience Program, Department of Biological Sciences, and Molecular and Cellular Biology Interdisciplinary Graduate Program, Ohio University, Athens, Ohio, USA.
Lee D; Neuroscience Program, Department of Biological Sciences, and Molecular and Cellular Biology Interdisciplinary Graduate Program, Ohio University, Athens, Ohio, USA. Electronic address: .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2021 Oct; Vol. 297 (4), pp. 101108. Date of Electronic Publication: 2021 Aug 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Alzheimer Disease/*metabolism
Neurons/*metabolism
tau Proteins/*metabolism
Alzheimer Disease/genetics ; Amino Acid Substitution ; Animals ; Cells, Cultured ; Drosophila melanogaster ; Humans ; Light ; Phosphorylation ; tau Proteins/genetics
Czasopismo naukowe
Tytuł :
Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue.
Autorzy :
Pacheco-Garcia JL; Departamento de Química Física, Universidad de Granada, Av. Fuentenueva s/n, 18071, Granada, Spain.
Anoz-Carbonell E; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (GBsC-CSIC and Joint Unit), Universidad de Zaragoza, 50009, Zaragoza, Spain.
Vankova P; Institute of Microbiology, Academy of Sciences of the Czech Republic, Videnska 1083, Prague 4, 142 20, Czech Republic; Department of Biochemistry, Faculty of Science, Charles University, Hlavova 2030/8, Prague 2, 128 43, Czech Republic.
Kannan A; Department of Biotechnology, Bhupat & Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras (IITM), Chennai, 600036, India.
Palomino-Morales R; Departmento de Bioquímica y Biología Molecular I, Facultad de Ciencias y Centro de Investigaciones Biomédicas (CIBM), Universidad de Granada, Granada, Spain.
Mesa-Torres N; Departamento de Química Física, Universidad de Granada, Av. Fuentenueva s/n, 18071, Granada, Spain.
Salido E; Center for Rare Diseases (CIBERER), Hospital Universitario de Canarias, Universidad de la Laguna, 38320, Tenerife, Spain.
Man P; Institute of Microbiology, Academy of Sciences of the Czech Republic, Videnska 1083, Prague 4, 142 20, Czech Republic.
Medina M; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (GBsC-CSIC and Joint Unit), Universidad de Zaragoza, 50009, Zaragoza, Spain.
Naganathan AN; Department of Biotechnology, Bhupat & Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras (IITM), Chennai, 600036, India.
Pey AL; Departamento de Química Física, Unidad de Excelencia en Química Aplicada a Biomedicina y Medioambiente e Instituto de Biotecnología, Universidad de Granada, Av. Fuentenueva s/n, 18071, Granada, Spain. Electronic address: .
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Źródło :
Redox biology [Redox Biol] 2021 Oct; Vol. 46, pp. 102112. Date of Electronic Publication: 2021 Aug 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
NAD(P)H Dehydrogenase (Quinone)*/genetics
NAD(P)H Dehydrogenase (Quinone)*/metabolism
Flavin-Adenine Dinucleotide/metabolism ; Humans ; NAD ; Protein Binding ; Quinones
Czasopismo naukowe
Tytuł :
Multiple Congenital Ocular Anomalies in a silver coat Missouri Fox Trotter stallion.
Autorzy :
Herb VM; Department for Companion Animals and Horses, Ophthalmology Unit, University of Veterinary Medicine.
Zehetner V; Department for Companion Animals and Horses, Equine Internal Medicine, University of Veterinary Medicine.
Blohm KO; Department for Companion Animals and Horses, Ophthalmology Unit, University of Veterinary Medicine.; AniCura Tierärztliche Spezialisten Hamburg.; Tierarztpraxis Schönhoff.
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Transliterated Title :
Multiple-angeborene-okuläre-Anomalien-Syndrom bei einem Missouri-Foxtrotter-Hengst mit Silberaufhellung.
Źródło :
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere [Tierarztl Prax Ausg G Grosstiere Nutztiere] 2021 Oct; Vol. 49 (5), pp. 350-354. Date of Electronic Publication: 2021 Oct 19.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Horses/*genetics
Animals ; Genotype ; Male ; Missouri ; Phenotype
Czasopismo naukowe
Tytuł :
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Autorzy :
Dongerdiye R; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Jagadeesh S; Department of Clinical Genetics and Genetic Counseling Department, MediScan Systems, Chennai, Tamil Nadu, India.
Suresh B; Department of Clinical Genetics and Genetic Counseling Department, MediScan Systems, Chennai, Tamil Nadu, India.
Rajendran A; Department of Hematology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India.
Devendra R; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Warang P; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Kedar PS; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India .
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Źródło :
Journal of clinical pathology [J Clin Pathol] 2021 Oct; Vol. 74 (10), pp. 620-624. Date of Electronic Publication: 2020 Dec 25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Mutation, Missense*
Anemia, Hemolytic/*genetics
Developmental Disabilities/*genetics
Hexokinase/*deficiency
Adult ; Age Factors ; Anemia, Hemolytic/diagnosis ; Anemia, Hemolytic/enzymology ; Child Development ; Child, Preschool ; DNA Mutational Analysis ; Developmental Disabilities/diagnosis ; Developmental Disabilities/enzymology ; Female ; Genetic Predisposition to Disease ; Heredity ; Hexokinase/genetics ; Hexokinase/metabolism ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; India ; Male ; Pedigree ; Phenotype ; Severity of Illness Index ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Hexokinase Deficiency Hemolytic Anemia
Czasopismo naukowe

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