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Wyszukujesz frazę ""Homozygote"" wg kryterium: Temat


Tytuł:
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Autorzy:
Thanprasertsuk S; Department of Physiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Cognitive Clinical & Computational Neuroscience (CCCN) Center of Excellence, Chulalongkorn University, Bangkok, Thailand.; Chula Neuroscience Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Phowthongkum P; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center of Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Hopetrungraung T; Department of Physiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Department of Medicine, Queen Savang Vadhana Memorial Hospital, Chonburi, Thailand.
Poorirerngpoom C; Department of Physiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Saraburi Hospital, Saraburi, Thailand.
Sathirapatya T; Department of Forensic Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Forensic Genetics Research Unit, Ratchadapiseksompotch Fund, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Wichit P; Department of Physiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Faculty of Physical Therapy, Huachiew Chalermprakiet University, Samut Prakan, Thailand.
Phokaewvarangkul O; Chula Neuroscience Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.; Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Chulalongkorn Centre of Excellence for Parkinson's Disease and Related Disorders, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Vongpaisarnsin K; Department of Forensic Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Forensic Genetics Research Unit, Ratchadapiseksompotch Fund, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Bongsebandhu-Phubhakdi S; Department of Physiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Chula Neuroscience Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Bhidayasiri R; Chula Neuroscience Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.; Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Chulalongkorn Centre of Excellence for Parkinson's Disease and Related Disorders, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.; The Academy of Science, The Royal Society of Thailand, Bangkok, Thailand.
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Źródło:
PloS one [PLoS One] 2023 Oct 31; Vol. 18 (10), pp. e0293516. Date of Electronic Publication: 2023 Oct 31 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Parkinson Disease*/drug therapy
Parkinson Disease*/genetics
Parkinson Disease*/epidemiology
Dyskinesias*/etiology
Humans ; Levodopa/adverse effects ; Levodopa/genetics ; Glucosylceramidase/genetics ; Glucosylceramidase/therapeutic use ; Homozygote ; Thailand ; Sequence Deletion ; Mutation ; High-Throughput Nucleotide Sequencing ; Age of Onset
Czasopismo naukowe
Tytuł:
GWAS of adventitious root formation in roses identifies a putative phosphoinositide phosphatase (SAC9) for marker-assisted selection.
Autorzy:
Wamhoff D; Institute of Horticultural Production Systems, Section Woody Plant and Propagation Physiology, Leibniz Universität Hannover, Hannover, Germany.
Patzer L; Institute of Plant Genetics, Section Molecular Plant Breeding, Leibniz Universität Hannover, Hannover, Germany.
Schulz DF; Institute of Plant Genetics, Section Molecular Plant Breeding, Leibniz Universität Hannover, Hannover, Germany.
Debener T; Institute of Plant Genetics, Section Molecular Plant Breeding, Leibniz Universität Hannover, Hannover, Germany.
Winkelmann T; Institute of Horticultural Production Systems, Section Woody Plant and Propagation Physiology, Leibniz Universität Hannover, Hannover, Germany.
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Źródło:
PloS one [PLoS One] 2023 Aug 18; Vol. 18 (8), pp. e0287452. Date of Electronic Publication: 2023 Aug 18 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome-Wide Association Study*
Phosphoinositide Phosphatases*
Genotype ; Biological Transport ; Homozygote
Czasopismo naukowe
Tytuł:
Detecting selection using extended haplotype homozygosity (EHH)-based statistics in unphased or unpolarized data.
Autorzy:
Klassmann A; Institute for Genetics, University of Cologne, Cologne, Germany.
Gautier M; CBGP, Univ Montpellier, CIRAD, INRAE, IRD, Institut Agro, Montpellier, France.
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Źródło:
PloS one [PLoS One] 2022 Jan 18; Vol. 17 (1), pp. e0262024. Date of Electronic Publication: 2022 Jan 18 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Homozygote*
Czasopismo naukowe
Tytuł:
Genetic diversity and the application of runs of homozygosity-based methods for inbreeding estimation in German White-headed Mutton sheep.
Autorzy:
Addo S; Institute of Animal Breeding and Husbandry, Kiel University, Kiel, Germany.; Department of Animal Breeding, University of Kassel, Witzenhausen, Germany.
Klingel S; Arche Warder, Center for Rare and Endangered Domestic Animals, Warder, Germany.
Thaller G; Institute of Animal Breeding and Husbandry, Kiel University, Kiel, Germany.
Hinrichs D; Department of Animal Breeding, University of Kassel, Witzenhausen, Germany.
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Źródło:
PloS one [PLoS One] 2021 May 06; Vol. 16 (5), pp. e0250608. Date of Electronic Publication: 2021 May 06 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
Polymorphism, Single Nucleotide*
Genomics/*methods
Inbreeding/*methods
Sheep, Domestic/*genetics
Animals ; Female ; Male ; Pedigree ; Population Density ; Sheep
Czasopismo naukowe
Tytuł:
Association between tobacco substance usage and a missense mutation in the tumor suppressor gene P53 in the Saudi Arabian population.
Autorzy:
Almutairi MH; Zoology Department, College of Science, King Saud University, Riyadh, Saudi Arabia.
Almutairi BO; Zoology Department, College of Science, King Saud University, Riyadh, Saudi Arabia.
Alrubie TM; Master's Student, Zoology Department, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
Alharbi SN; National Center for Stem Cell Technology, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Parine NR; Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
Alrefaei AF; Zoology Department, College of Science, King Saud University, Riyadh, Saudi Arabia.
Aldeailej I; Ministry of Health, Riyadh Regional Lab Director, Riyadh, Kingdom of Saudi Arabia.
Alamri A; Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
Semlali A; Groupe de Recherche en Écologie Buccale, Faculté de Médecine Dentaire, Université Laval, Québec, Canada.
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Źródło:
PloS one [PLoS One] 2021 Jan 22; Vol. 16 (1), pp. e0245133. Date of Electronic Publication: 2021 Jan 22 (Print Publication: 2021).
Typ publikacji:
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Heterozygote*
Homozygote*
Mutation, Missense*
Polymorphism, Single Nucleotide*
Smoking/*genetics
Tumor Suppressor Protein p53/*genetics
Adult ; Alleles ; Female ; Gene Frequency ; Humans ; Male ; Saudi Arabia
Czasopismo naukowe
Tytuł:
Runs of Homozygosity and NetView analyses provide new insight into the genome-wide diversity and admixture of three German cattle breeds.
Autorzy:
Addo S; Institute of Animal Breeding and Husbandry, Kiel University, Kiel, Germany.; Department of Animal Breeding, University of Kassel, Witzenhausen, Germany.
Klingel S; Center for Rare and Endangered Domestic Animals, Arche Warder, Warder, Germany.
Hinrichs D; Department of Animal Breeding, University of Kassel, Witzenhausen, Germany.
Thaller G; Institute of Animal Breeding and Husbandry, Kiel University, Kiel, Germany.
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Źródło:
PloS one [PLoS One] 2019 Dec 04; Vol. 14 (12), pp. e0225847. Date of Electronic Publication: 2019 Dec 04 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Breeding*
Genetic Variation*
Genome*
Genome-Wide Association Study*/methods
Genomics*/methods
Homozygote*
Software*
Algorithms ; Animals ; Cattle ; Evolution, Molecular ; Genetics, Population ; Genotype ; Germany ; Inbreeding ; Linkage Disequilibrium ; Models, Genetic ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Runs of homocigosity and its association with productive traits in Mexican Holstein cattle.
Autorzy:
Cortes-Hernández JG; Programa de Maestría y Doctorado en Ciencias de la Producción y de la Salud Animal, Universidad Nacional Autónoma de México, Ciudad de México, México.
Ruiz-López FJ; Centro Nacional de Investigación Disciplinaria en Fisiología y Mejoramiento Animal, Instituto Nacional de Investigaciones Forestales Agrícolas y Pecuarias, Ajuchitlán Colón Querétaro, México.
Vásquez-Peláez CG; Departamento de Genética y Bioestadística de la Facultad de Medicina Veterinaria y Zootecnia, Universidad Nacional Autónoma de México, Ciudad de México, México.
García-Ruiz A; Centro Nacional de Investigación Disciplinaria en Fisiología y Mejoramiento Animal, Instituto Nacional de Investigaciones Forestales Agrícolas y Pecuarias, Ajuchitlán Colón Querétaro, México.
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Źródło:
PloS one [PLoS One] 2022 Sep 19; Vol. 17 (9), pp. e0274743. Date of Electronic Publication: 2022 Sep 19 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome*
Inbreeding*
Animals ; Cattle/genetics ; Genotype ; Homozygote ; Phenotype
Czasopismo naukowe
Tytuł:
Genomic inbreeding and runs of homozygosity analysis of indigenous cattle populations in southern China.
Autorzy:
Liu Y; Innovation Team of Cattle Genetic Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.; College of Animal Science, South China Agricultural University, Guangzhou, China.
Zhao G; Innovation Team of Cattle Genetic Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
Lin X; College of Animal Science, South China Agricultural University, Guangzhou, China.
Zhang J; College of Animal Science, South China Agricultural University, Guangzhou, China.
Hou G; Tropical Crop Germplasm Research Institute, Chinese Academy of Tropical Agricultural Sciences, Hainan, China.
Zhang L; Innovation Team of Cattle Genetic Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
Liu D; College of Animal Science, South China Agricultural University, Guangzhou, China.
Li Y; College of Animal Science, South China Agricultural University, Guangzhou, China.
Li J; Innovation Team of Cattle Genetic Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
Xu L; Innovation Team of Cattle Genetic Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
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Źródło:
PloS one [PLoS One] 2022 Aug 25; Vol. 17 (8), pp. e0271718. Date of Electronic Publication: 2022 Aug 25 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Inbreeding*
Semen*
Animals ; Cattle/genetics ; Genome/genetics ; Genomics ; Homozygote ; Male
Czasopismo naukowe
Tytuł:
Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.
Autorzy:
Kakar MU; Faculty of Marine Sciences, Lasbela University of Agriculture, Water and Marine Sciences (LUAWMS), Uthal, Balochistan, Pakistan.
Akram M; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.
Zubair Mehboob M; CAS Center for Excellence in Biotic Interaction, College of Life Sciences, University of Chinese Academy of Science, Beijing, China.
Younus M; State Key Laboratory of Membrane Biology, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Institute of Molecular Medicine, Peking-Tsinghua Center for Life Sciences, PKU-IDG/McGovern Institute for Brain Research, Peking University, Beijing, China.
Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Waqas A; Division of Science and Technology, Department of Zoology, University of Education Lahore, Lahore, Pakistan.
Nazir A; Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Shandong Province, China.
Shafi M; Faculty of Marine Sciences, Lasbela University of Agriculture, Water and Marine Sciences (LUAWMS), Uthal, Balochistan, Pakistan.
Umair M; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.
Ahmad S; Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences (LUAWMS), Uthal, Balochistan, Pakistan.
Rafeeq MM; Department of Pharmacology, Faculty of Medicine, Rabigh King Abdul Aziz University, Jeddah, KSA.
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Źródło:
PloS one [PLoS One] 2022 Jun 16; Vol. 17 (6), pp. e0268078. Date of Electronic Publication: 2022 Jun 16 (Print Publication: 2022).
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Deafness*/genetics
Hearing Loss*/genetics
Hearing Loss, Sensorineural*/genetics
Genes, Recessive ; Homozygote ; Humans ; Mutation ; Mutation, Missense ; Pedigree
SCR Disease Name:
Nonsyndromic Deafness
Czasopismo naukowe
Tytuł:
Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.
Autorzy:
McLaren CE; Department of Epidemiology, University of California, Irvine, California, United States of America.
Chen WP; Chao Family Comprehensive Cancer Center, Orange, California, United States of America.
Bertalli NA; Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.; Murdoch Childrens Research Institute, Melbourne, Australia.
Delatycki MB; Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Australia.; Victorian Clinical Genetics Services, Melbourne, Australia.
Giles GG; Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.; Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, Australia.
English DR; Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.; Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, Australia.
Hopper JL; Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Allen KJ; Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Australia.; Department of Gastroenterology, Royal Children's Hospital, Melbourne, Australia.
Gurrin LC; Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
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Źródło:
PloS one [PLoS One] 2019 Mar 26; Vol. 14 (3), pp. e0214196. Date of Electronic Publication: 2019 Mar 26 (Print Publication: 2019).
Typ publikacji:
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
Models, Biological*
Ferritins/*blood
Hemochromatosis Protein/*genetics
Transferrin/*metabolism
Adult ; Amino Acid Substitution ; Australia ; Female ; Hemochromatosis/blood ; Hemochromatosis/genetics ; Humans ; Male ; Middle Aged ; Mutation, Missense
Czasopismo naukowe
Tytuł:
Runs of homozygosity in a selected cattle population with extremely inbred bulls: Descriptive and functional analyses revealed highly variable patterns.
Autorzy:
Goszczynski D; IGEVET-Instituto de Genética Veterinaria 'Ing. Fernando N. Dulout' (UNLP-CONICET LA PLATA), Facultad de Ciencias Veterinarias UNLP, La Plata, Argentina.
Molina A; Departamento de Genética, Universidad de Córdoba, Córdoba, España.
Terán E; IGEVET-Instituto de Genética Veterinaria 'Ing. Fernando N. Dulout' (UNLP-CONICET LA PLATA), Facultad de Ciencias Veterinarias UNLP, La Plata, Argentina.
Morales-Durand H; IGEVET-Instituto de Genética Veterinaria 'Ing. Fernando N. Dulout' (UNLP-CONICET LA PLATA), Facultad de Ciencias Veterinarias UNLP, La Plata, Argentina.
Ross P; Department of Animal Science, University of California, Davis, Davis, California, United States of America.
Cheng H; Department of Animal Science, University of California, Davis, Davis, California, United States of America.
Giovambattista G; IGEVET-Instituto de Genética Veterinaria 'Ing. Fernando N. Dulout' (UNLP-CONICET LA PLATA), Facultad de Ciencias Veterinarias UNLP, La Plata, Argentina.; Departamento de Genética, Universidad de Córdoba, Córdoba, España.; Department of Animal Science, University of California, Davis, Davis, California, United States of America.; Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Buenos Aires, Argentina.
Demyda-Peyrás S; IGEVET-Instituto de Genética Veterinaria 'Ing. Fernando N. Dulout' (UNLP-CONICET LA PLATA), Facultad de Ciencias Veterinarias UNLP, La Plata, Argentina.; Departamento de Genética, Universidad de Córdoba, Córdoba, España.; Department of Animal Science, University of California, Davis, Davis, California, United States of America.; Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Buenos Aires, Argentina.
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Źródło:
PloS one [PLoS One] 2018 Jul 09; Vol. 13 (7), pp. e0200069. Date of Electronic Publication: 2018 Jul 09 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
Inbreeding*
Cattle/*genetics
Animals ; Female ; Genomics ; Male ; Multigene Family/genetics ; Recombination, Genetic
Czasopismo naukowe
Tytuł:
Homozygous deletion of both GSTM1 and GSTT1 genes is associated with higher CD4+ T cell counts in Ghanaian HIV patients.
Autorzy:
Kuleape JA; West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Accra, Ghana.
Tagoe EA; West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Accra, Ghana.
Puplampu P; Department of Medicine, Korle Bu Teaching Hospital, Accra, Ghana.
Bonney EY; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Accra, Ghana.
Quaye O; West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Accra, Ghana.
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Źródło:
PloS one [PLoS One] 2018 May 24; Vol. 13 (5), pp. e0195954. Date of Electronic Publication: 2018 May 24 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
Sequence Deletion*
CD4-Positive T-Lymphocytes/*immunology
Glutathione Transferase/*genetics
HIV/*immunology
HIV Infections/*immunology
Adult ; Cross-Sectional Studies ; Disease Progression ; Female ; Genetic Predisposition to Disease ; Genotype ; HIV Infections/genetics ; HIV Infections/virology ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Risk Factors
Czasopismo naukowe
Tytuł:
A novel dual-labeled small peptide as a multimodal imaging agent for targeting wild-type EGFR in tumors.
Autorzy:
Kim MH; Department of Nuclear Medicine and Institute of Wonkwang Medical Science, Wonkwang University School of Medicine, Iksan, Jeollabuk-do, Korea.
Kim SG; Research Unit of Molecular Imaging Agent (RUMIA), Wonkwang University School of Medicine, Iksan, Jeollabuk-do, Korea.
Kim DW; Department of Nuclear Medicine and Institute of Wonkwang Medical Science, Wonkwang University School of Medicine, Iksan, Jeollabuk-do, Korea.; Research Unit of Molecular Imaging Agent (RUMIA), Wonkwang University School of Medicine, Iksan, Jeollabuk-do, Korea.
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Źródło:
PloS one [PLoS One] 2022 Feb 04; Vol. 17 (2), pp. e0263474. Date of Electronic Publication: 2022 Feb 04 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
ErbB Receptors/*metabolism
Multimodal Imaging/*methods
Neoplasms/*metabolism
Peptides/*pharmacology
Animals ; Cell Line, Tumor ; Female ; Homozygote ; Humans ; Kinetics ; Mice ; Mice, Inbred BALB C ; Microscopy, Confocal ; Molecular Imaging ; Neoplasm Transplantation ; Peptides/chemistry ; Protein Binding ; Radiopharmaceuticals/chemistry ; Rhodamines/pharmacology ; Technetium/chemistry ; Tissue Distribution
Czasopismo naukowe
Tytuł:
Homozygous KSR1 deletion attenuates morbidity but does not prevent tumor development in a mouse model of RAS-driven pancreatic cancer.
Autorzy:
Germino EA; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Department of Research Biology, Genentech, South San Francisco, California, United States of America.
Miller JP; Division of Nephrology, Washington University School of Medicine, St. Louis, Missouri, United States of America.
Diehl L; Department of Pathology, Genentech, South San Francisco, California, United States of America.
Swanson CJ; Department of Research Biology, Genentech, South San Francisco, California, United States of America.
Durinck S; Department of Bioinformatics and Computational Biology, Genentech, South San Francisco, California, United States of America.; Department of Molecular Biology, Genentech, South San Francisco, California, United States of America.
Modrusan Z; Department of Molecular Biology, Genentech, South San Francisco, California, United States of America.
Miner JH; Division of Nephrology, Washington University School of Medicine, St. Louis, Missouri, United States of America.
Shaw AS; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Department of Research Biology, Genentech, South San Francisco, California, United States of America.
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Źródło:
PloS one [PLoS One] 2018 Mar 29; Vol. 13 (3), pp. e0194998. Date of Electronic Publication: 2018 Mar 29 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Deletion*
Homozygote*
Pancreatic Neoplasms/*genetics
Pancreatic Neoplasms/*pathology
Protein Kinases/*deficiency
Protein Kinases/*genetics
ras Proteins/*metabolism
Adenocarcinoma/complications ; Adenocarcinoma/genetics ; Adenocarcinoma/metabolism ; Adenocarcinoma/pathology ; Animals ; Carcinogenesis/genetics ; Disease Models, Animal ; Mice ; Mice, Inbred C57BL ; Morbidity ; Pancreatic Neoplasms/complications ; Pancreatic Neoplasms/metabolism ; Rectal Prolapse/complications ; Rectal Prolapse/prevention & control ; Tumor Suppressor Protein p53/metabolism
Czasopismo naukowe
Tytuł:
Artificial selection increased body weight but induced increase of runs of homozygosity in Hanwoo cattle.
Autorzy:
Kim K; Interdisciplinary Program in Bioinformatics, Seoul National University, Kwan-ak Gu, Seoul, Republic of Korea.; C&K genomics, C-1008, H businesspark, 26, Beobwon-ro 9-gil, Songpa-gu, Seoul, Republic of Korea.
Jung J; C&K genomics, C-1008, H businesspark, 26, Beobwon-ro 9-gil, Songpa-gu, Seoul, Republic of Korea.; Department of Agricultural Biotechnology, Seoul National University, Kwan-ak Gu, Seoul, Republic of Korea.
Caetano-Anollés K; Department of Agricultural Biotechnology, Animal Biotechnology Major, and Research Institute for Agriculture and Life Sciences, Seoul National University, Seoul, Korea.
Sung S; C&K genomics, C-1008, H businesspark, 26, Beobwon-ro 9-gil, Songpa-gu, Seoul, Republic of Korea.
Yoo D; Interdisciplinary Program in Bioinformatics, Seoul National University, Kwan-ak Gu, Seoul, Republic of Korea.; C&K genomics, C-1008, H businesspark, 26, Beobwon-ro 9-gil, Songpa-gu, Seoul, Republic of Korea.
Choi BH; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Kim HC; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Jeong JY; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Cho YM; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Park EW; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Choi TJ; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Park B; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Lim D; National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea.
Kim H; Interdisciplinary Program in Bioinformatics, Seoul National University, Kwan-ak Gu, Seoul, Republic of Korea.; Department of Agricultural Biotechnology, Seoul National University, Kwan-ak Gu, Seoul, Republic of Korea.
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Źródło:
PloS one [PLoS One] 2018 Mar 21; Vol. 13 (3), pp. e0193701. Date of Electronic Publication: 2018 Mar 21 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
Inbreeding*
Selection, Genetic*
Body Weight/*genetics
Animals ; Cattle ; Genome ; Genomics ; Genotype ; Male ; Phenotype ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Abdominal pain and cirrhosis at diagnosis of hemochromatosis: Analysis of 219 referred probands with HFE p.C282Y homozygosity and a literature review.
Autorzy:
Barton JC; Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, United States of America.; Southern Iron Disorders Center, Birmingham, AL, United States of America.
Barton JC; Southern Iron Disorders Center, Birmingham, AL, United States of America.
Patel N; Division of Hematology/Oncology, Department of Medicine, University of California, Irvine, CA, United States of America.
McLaren GD; Division of Hematology/Oncology, Department of Medicine, University of California, Irvine, CA, United States of America.; Department of Veterans Affairs Long Beach Healthcare System, Long Beach, CA, United States of America.
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Źródło:
PloS one [PLoS One] 2021 Dec 21; Vol. 16 (12), pp. e0261690. Date of Electronic Publication: 2021 Dec 21 (Print Publication: 2021).
Typ publikacji:
Journal Article; Review
MeSH Terms:
Abdominal Pain/*etiology
Hemochromatosis/*complications
Hemochromatosis Protein/*genetics
Liver Cirrhosis/*etiology
Female ; Hemochromatosis/genetics ; Homozygote ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Retrospective Studies
Czasopismo naukowe
Tytuł:
A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability.
Autorzy:
Shiota Y; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Hirosawa T; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.; Department of Psychiatry and Neurobiology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
Yoshimura Y; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Institute of Human and Social Sciences, Kanazawa University, Kanazawa, Japan.
Tanaka S; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Hasegawa C; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Iwasaki S; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
An KM; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Soma D; Department of Psychiatry and Neurobiology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
Sano M; Department of Psychiatry and Neurobiology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
Yokoyama S; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Kikuchi M; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Kanazawa, Japan.; Research Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.; Department of Psychiatry and Neurobiology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
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Źródło:
PloS one [PLoS One] 2021 Dec 13; Vol. 16 (12), pp. e0260548. Date of Electronic Publication: 2021 Dec 13 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autistic Disorder/*diagnosis
Intellectual Disability/*diagnosis
Membrane Proteins/*genetics
Nerve Tissue Proteins/*genetics
Alleles ; Autistic Disorder/genetics ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Homozygote ; Humans ; Intellectual Disability/genetics ; Intelligence Tests ; Japan ; Male ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.
Autorzy:
Giacopuzzi E; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Gennarelli M; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.; Genetic Unit, IRCCS Centro S. Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Minelli A; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Gardella R; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Valsecchi P; Department of Clinical and Experimental Sciences, Neuroscience Section, University of Brescia, Brescia, Italy.; Department of Mental Health, Spedali Civili Hospital, Brescia, Italy.
Traversa M; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Bonvicini C; Genetic Unit, IRCCS Centro S. Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Vita A; Department of Clinical and Experimental Sciences, Neuroscience Section, University of Brescia, Brescia, Italy.; Department of Mental Health, Spedali Civili Hospital, Brescia, Italy.
Sacchetti E; Department of Clinical and Experimental Sciences, Neuroscience Section, University of Brescia, Brescia, Italy.; Department of Mental Health, Spedali Civili Hospital, Brescia, Italy.
Magri C; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
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Źródło:
PloS one [PLoS One] 2017 Aug 07; Vol. 12 (8), pp. e0182778. Date of Electronic Publication: 2017 Aug 07 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
DNA Mutational Analysis*
Homozygote*
Exome/*genetics
Glutamic Acid/*metabolism
Schizophrenia/*genetics
gamma-Aminobutyric Acid/*metabolism
Adolescent ; Adult ; Aged ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Inbreeding ; Male ; Middle Aged ; Mutation ; Young Adult
Czasopismo naukowe
Tytuł:
The distribution of runs of homozygosity and selection signatures in six commercial meat sheep breeds.
Autorzy:
Purfield DC; Animal & Grassland Research and Innovation Center, Teagasc, Moorepark, Fermoy, Co. Cork, Ireland.
McParland S; Animal & Grassland Research and Innovation Center, Teagasc, Moorepark, Fermoy, Co. Cork, Ireland.
Wall E; Sheep Ireland, Bandon, Co. Cork, Ireland.
Berry DP; Animal & Grassland Research and Innovation Center, Teagasc, Moorepark, Fermoy, Co. Cork, Ireland.
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Źródło:
PloS one [PLoS One] 2017 May 02; Vol. 12 (5), pp. e0176780. Date of Electronic Publication: 2017 May 02 (Print Publication: 2017).
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Homozygote*
Inbreeding*
Selection, Genetic*
Sheep, Domestic/*genetics
Algorithms ; Animals ; Domestication ; Gene Frequency ; Genotyping Techniques ; Meat ; Models, Genetic ; Polymorphism, Single Nucleotide ; Population Density ; Principal Component Analysis ; Recombination, Genetic ; Species Specificity
Czasopismo naukowe
Tytuł:
Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
Autorzy:
Kausar N; Department of Bioinformatics and Biotechnology, Government College University, Faisalabad, Pakistan.; Department of Molecular Biology and Biochemistry, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Haque A; Department of Bioinformatics and Biotechnology, Government College University, Faisalabad, Pakistan.
Masoud MS; Department of Bioinformatics and Biotechnology, Government College University, Faisalabad, Pakistan.
Nahid N; Department of Bioinformatics and Biotechnology, Government College University, Faisalabad, Pakistan.
Ashfaq UA; Department of Bioinformatics and Biotechnology, Government College University, Faisalabad, Pakistan.
Waryah AM; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Bhatti R; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Qasim M; Department of Bioinformatics and Biotechnology, Government College University, Faisalabad, Pakistan.
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Źródło:
PloS one [PLoS One] 2021 Oct 25; Vol. 16 (10), pp. e0259083. Date of Electronic Publication: 2021 Oct 25 (Print Publication: 2021).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Mutation*
Connexin 26/*genetics
Deafness/*genetics
Female ; Homozygote ; Humans ; Male ; Pakistan ; Pedigree
Czasopismo naukowe

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