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Tytuł:
Temperature adaptation patterns in Chinese cattle revealed by TRPM2 gene mutation analysis.
Autorzy:
Liu D; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A and F University, Yangling, China.
Yang Y; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A and F University, Yangling, China.
Chen Z; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A and F University, Yangling, China.
Fan Y; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A and F University, Yangling, China.
Liu J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Xu Y; Department of Veterinary Medicine, College of Coastal Agricultural Sciences, Guangdong Ocean University, Zhanjiang, Guangdong, China.
Ahmed Z; Department of Livestock and Poultry Production, Faculty of Veterinary and Animal Sciences, University of Poonch Rawalakot, Azad Jammu and Kashmir, Pakistan.
Zhang J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Li F; Hunan Tianhua Industrial Corporation Ltd, Lianyuan, China.
Qi X; Biyang Xianan Cattle Technology and Development Company Ltd, Biyang, China.
Song W; Animal Disease Prevention and Control Center of Yushu Tibetan Autonomous Prefecture, Yushu, China.
Zhu K; Animal Disease Prevention and Control Center of Yushu Tibetan Autonomous Prefecture, Yushu, China.
Gongque J; Animal Disease Prevention and Control Center of Yushu Tibetan Autonomous Prefecture, Yushu, China.
Li G; Forestry and Grassland Comprehensive Service Center of Yushu Prefecture, Qinghai, China.
Huang B; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Lei C; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A and F University, Yangling, China.
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Źródło:
Animal biotechnology [Anim Biotechnol] 2024 Nov; Vol. 35 (1), pp. 2299944. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Journal Article
MeSH Terms:
TRPM Cation Channels*/genetics
Cattle/genetics ; Animals ; Temperature ; Gene Frequency ; Genotype ; Mutation, Missense ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutations in the F protein of the live-attenuated respiratory syncytial virus vaccine candidate ΔNS2/Δ1313/I1314L increase the stability of infectivity and content of prefusion F protein.
Autorzy:
Alamares-Sapuay J; Sanofi, Cambridge, Massachusetts, United States of America.
Kishko M; Sanofi, Cambridge, Massachusetts, United States of America.
Lai C; Sanofi, Cambridge, Massachusetts, United States of America.
Parrington M; Sanofi, Cambridge, Massachusetts, United States of America.
Delagrave S; Sanofi, Cambridge, Massachusetts, United States of America.
Herbert R; Experimental Primate Virology Section, Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Poolesville, Maryland, United States of America.
Castens A; Experimental Primate Virology Section, Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Poolesville, Maryland, United States of America.
Swerczek J; Experimental Primate Virology Section, Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Poolesville, Maryland, United States of America.
Luongo C; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Yang L; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Collins PL; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Buchholz UJ; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Zhang L; Sanofi, Cambridge, Massachusetts, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Apr 09; Vol. 19 (4), pp. e0301773. Date of Electronic Publication: 2024 Apr 09 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Respiratory Syncytial Virus Vaccines*/genetics
Respiratory Syncytial Virus, Human*/genetics
Respiratory Syncytial Virus Infections*
Animals ; Humans ; Chlorocebus aethiops ; Child ; Vero Cells ; Antibodies, Viral ; Viral Fusion Proteins/genetics ; Antibodies, Neutralizing ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.
Autorzy:
Rao S; Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Neuroscience Graduate Program, University of Southern California, Los Angeles, CA, 90089, USA. .
Sadybekov A; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA.; Department of Chemistry, University of Southern California, Los Angeles, CA, 90089, USA.
DeWitt DC; Department of Pathology, Genentech, Inc., South San Francisco, CA, 94080, USA.
Lipka J; Department of Neuroscience, Genentech, Inc., South San Francisco, CA, 94080, USA.
Katritch V; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA. .; Department of Chemistry, University of Southern California, Los Angeles, CA, 90089, USA. .
Herring BE; Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Neuroscience Graduate Program, University of Southern California, Los Angeles, CA, 90089, USA. .
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Źródło:
Molecular autism [Mol Autism] 2024 Apr 03; Vol. 15 (1), pp. 12. Date of Electronic Publication: 2024 Apr 03.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/metabolism
Intellectual Disability*/genetics
Intellectual Disability*/metabolism
Humans ; HEK293 Cells ; Mutation ; Mutation, Missense ; Neurons/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
Autorzy:
Hesami H; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Ghasemi S; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Houshmand G; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Nilipour Y; Pediatric Pathology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Hesami M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Biglari A; School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Nafissi S; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. .
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Mar 27; Vol. 25 (1), pp. 241. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Adult ; Humans ; Young Adult ; Dysferlin/genetics ; Mutation ; Mutation, Missense ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
Autorzy:
Xie Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Liu C; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Yu H; Department of Clinical Laboratory, Peking University First Hospital, Beijing, 100034, China.
Xie Z; Department of Epidemiology and Biostatistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, 610041, China.
Sun C; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Hu X; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Bai L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wei L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Sun P; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhao Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhang W; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wang Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Meng L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
Yuan Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 14; Vol. 19 (1), pp. 123. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Mutation, Missense/genetics ; RNA, Messenger/genetics ; Sarcoglycans/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Autorzy:
Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Martín-Merida I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Avila-Fernandez A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Fernandez-San Jose P; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Genetics, Ramón y Cajal University Hospital, 28034 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Irigoyen C; Ophthalmology Service, Donostia University Hospital, 20014 Donostia-San Sebastián, Spain.
Jimenez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Lopez-Grondona F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Mahillo I; Department of Statistics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Martin-Gutierrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Perea-Romero I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Del Pozo-Valero M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Riveiro-Alvarez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodilla C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodriguez-Peña L; Sección de Genética Medica, Servicio de Pediatría, HCU Virgen de la Arrixaca, 30120 Murcia, Spain.
Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Swafiri ST; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Trujillo-Tiebas MJ; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Zurita O; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.
Typ publikacji:
Journal Article
MeSH Terms:
Retinal Dystrophies*/genetics
Retinitis Pigmentosa*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Mutation, Missense ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Autorzy:
Saez-Matia A; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.
Ibarluzea MG; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.
M-Alicante S; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.
Muguruza-Montero A; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.
Nuñez E; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.
Ramis R; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.
Ballesteros OR; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Centro de Física de Materiales CFM, CSIC-UPV/EHU, 20018 Donostia, Spain.
Lasa-Goicuria D; Donostia International Physics Center, 20018 Donostia, Spain.
Fons C; Pediatric Neurology Department, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, Barcelona University, 08950 Barcelona, Spain.
Gallego M; Departamento de Fisiología, Universidad del País Vasco, UPV/EHU, 01006 Vitoria-Gasteiz, Spain.
Casis O; Departamento de Fisiología, Universidad del País Vasco, UPV/EHU, 01006 Vitoria-Gasteiz, Spain.
Leonardo A; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.
Bergara A; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.; Centro de Física de Materiales CFM, CSIC-UPV/EHU, 20018 Donostia, Spain.
Villarroel A; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy, Benign Neonatal*/genetics
Epilepsy, Generalized*
Infant, Newborn ; Humans ; Artificial Intelligence ; Mutation, Missense ; Mutation ; KCNQ2 Potassium Channel/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation
Autorzy:
Ye L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Liu M; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Yang L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Wang M; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Xie Y; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
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Źródło:
Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2024 Mar 01; Vol. 41 (1), pp. 66-68. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Factor XII*/genetics
Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Autorzy:
Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Alexander von Humboldt Fellowship Foundation, Berlin, Germany.
Al Shamsi B; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.; Child Health Department, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Al Shehhi M; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Kashgari AA; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Al Balushi A; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.; Child Health Department, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Al Dihan FA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alghamdi MA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Manal A; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
González-Álvarez AC; Bioscience Program, Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.
Arold ST; Bioscience Program, Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, Montpellier, France.
Eyaid W; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2274. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Journal Article
MeSH Terms:
Progeria*/genetics
Pregnancy ; Female ; Humans ; Phenotype ; Fetal Growth Retardation/genetics ; Mutation, Missense ; Syndrome ; RNA Polymerase III/genetics
SCR Disease Name:
Progeroid syndrome, neonatal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Autorzy:
Stadermann A; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Haar M; Department of Intensive Care Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20251 Hamburg, Germany.
Riecke A; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Mayer T; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Neumann C; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Bauer A; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Schulz A; Department of Pediatric Medicine, University Hospital Ulm, Eythstraße 24, 89075 Ulm, Germany.
Nagarathinam K; Institute of Biochemistry, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Gebauer N; Department of Hematology and Oncology, University Hospital Schleswig-Holstein Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Böhm S; Institute for Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacher Straße 115, 79106 Freiburg, Germany.; Division of Pediatric Stem Cell Transplantation and Immunology, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.
Groß M; Institute for Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacher Straße 115, 79106 Freiburg, Germany.
Grunert M; Department of Nuclear Medicine, Bundeswehrkrankenhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.; Department of Nuclear Medicine, University Hospital Ulm, Albert-Einstein-Allee 23, 89081 Ulm, Germany.
Müller M; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Witte H; Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.; Department of Hematology and Oncology, University Hospital Schleswig-Holstein Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Review; Case Reports
MeSH Terms:
Lymphohistiocytosis, Hemophagocytic*/genetics
Female ; Humans ; Young Adult ; Adult ; Perforin/genetics ; Mutation, Missense ; Exons ; Genomics ; Mutation
Recenzja
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Autorzy:
Takahashi S; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Kojima T; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Otolaryngology, Head and Neck Surgery, National Hospital Organization Tochigi Medical Center, Tochigi 320-0057, Japan.
Wasano K; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Otolaryngology, Head and Neck Surgery, Tokai University School of Medicine, Isehara 259-1193, Japan.
Homma K; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University, Evanston, IL 60208, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Deafness*
Humans ; Sulfate Transporters ; Proteins/metabolism ; Anions/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
Autorzy:
Wang MT; Institute of Emergency and Critical Care Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Critical Care Medicine, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.
Weng KP; Congenital Structural Heart Disease Center, Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.
Chang SK; Excelsior Biopharma Inc., Taipei 115, Taiwan.
Huang WC; Department of Critical Care Medicine, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.; Department of Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Physical Therapy, Fooyin University, Kaohsiung 813, Taiwan.
Chen LW; Institute of Emergency and Critical Care Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Surgery, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.; Department of Biological Sciences, National Sun Yat-Sen University, Kaohsiung 813, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Pulmonary Arterial Hypertension*/genetics
Humans ; Familial Primary Pulmonary Hypertension/genetics ; Mutation, Missense ; Hemodynamics ; Sequence Deletion ; Bone Morphogenetic Protein Receptors, Type II/genetics ; Mutation ; Adenosine Triphosphatases/genetics ; Membrane Transport Proteins/genetics ; Growth Differentiation Factor 2/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Autorzy:
Nagy A; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Molay F; Division of Clinical Research, Massachusetts General Hospital, 55 Fruit St, Boston, MA, 02114, USA.
Hargadon S; Fly Little Bird Foundation, PO Box 698, Excelsior, MN, 55331, USA.
Brito Pires C; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Grant N; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
De La Rosa Abreu L; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Chen JY; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
D'Souza P; National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.
Macnamara E; National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.
Tifft C; National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.
Becker C; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Melo De Gusmao C; Division of Movement Disorders, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Hale Building for Transformative Medicine Room 10016L, 60 Fenwood Road, Boston, 02115, USA.
Khurana V; Division of Movement Disorders, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Hale Building for Transformative Medicine Room 10016L, 60 Fenwood Road, Boston, 02115, USA.
Neumeyer AM; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.; Lurie Center for Autism, Massachusetts General Hospital, 1 Maguire Road, Lexington, MA, 02124, USA.
Eichler FS; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 20; Vol. 19 (1), pp. 79. Date of Electronic Publication: 2024 Feb 20.
Typ publikacji:
Journal Article
MeSH Terms:
Neurodevelopmental Disorders*
Humans ; Cross-Sectional Studies ; Mutation, Missense/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Repressor Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders.
Autorzy:
Baum E; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Huang W; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Vincent-Delorme C; Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, F-59037 Lille, France.
Brunelle P; Institut de Génétique Médicale, University of Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.
Antebi A; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.; Department of Pediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London WC2R 2LS, UK.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 08; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Coloboma*
Neurodevelopmental Disorders*/genetics
Humans ; Mutation, Missense ; Phenotype ; RNA Splicing Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Synergy of Mutation-Induced Effects in Human Vitamin K Epoxide Reductase: Perspectives and Challenges for Allo-Network Modulator Design.
Autorzy:
Botnari M; Centre Borelli, École Normale Supérieure (ENS) Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, 4 Avenue des Sciences, F-91190 Gif-sur-Yvette, France.
Tchertanov L; Centre Borelli, École Normale Supérieure (ENS) Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, 4 Avenue des Sciences, F-91190 Gif-sur-Yvette, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 07; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 07.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Vitamin K Epoxide Reductases*/genetics
Vitamin K Epoxide Reductases*/metabolism
Humans ; Mutation ; Oxidation-Reduction ; Vitamin K/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.
Autorzy:
Christen M; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Gregor A; Department of Human Genetics, Inselspital, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
Gutierrez-Quintana R; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Bongers J; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Rupp A; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Penderis J; Vet-Extra Neurology, Stirling, UK.
Shelton GD; Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA, USA.
Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Zweier C; Department of Human Genetics, Inselspital, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland. .
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 05; Vol. 14 (1), pp. 2975. Date of Electronic Publication: 2024 Feb 05.
Typ publikacji:
Journal Article
MeSH Terms:
Dystonic Disorders*/genetics
Dystonic Disorders*/veterinary
Leigh Disease*/genetics
Leigh Disease*/veterinary
Animals ; Dogs ; Drosophila melanogaster/genetics ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
Autorzy:
McDonald EF; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.
Oliver KE; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America.; Center for Cystic Fibrosis and Airways Diseases, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, United States of America.
Schlebach JP; Department of Chemistry, Purdue University, West Lafyette, Indiana, United States of America.
Meiler J; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, United States of America.; Institute for Drug Discovery, Leipzig University, Leipzig, Germany.
Plate L; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Jan 25; Vol. 19 (1), pp. e0297560. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/genetics
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Benchmarking ; Virulence ; Mutation, Missense ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses.
Autorzy:
Krull F; Institute of Veterinary Medicine, Georg-August University Goettingen, Goettingen, Germany.
Bleyer M; German Primate Center, Pathology Unit, Goettingen, Germany.
Schäfer J; Institute of Veterinary Medicine, Georg-August University Goettingen, Goettingen, Germany.
Brenig B; Institute of Veterinary Medicine, Georg-August University Goettingen, Goettingen, Germany.
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Źródło:
PloS one [PLoS One] 2024 Jan 22; Vol. 19 (1), pp. e0291411. Date of Electronic Publication: 2024 Jan 22 (Print Publication: 2024).
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Ectodermal Dysplasia 1, Anhidrotic*/genetics
Ectodermal Dysplasia 1, Anhidrotic*/veterinary
Cattle Diseases*/genetics
Animals ; Cattle ; Male ; Ectodysplasins/genetics ; Genes, X-Linked ; Mammals ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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