المؤلفون: Marchi R; Division of Angiology and Hemostasis, Department of Medicine, University Hospitals of Geneva, University of Geneva, Switzerland. Electronic address: rita.marchicappelletti@unige.ch., Meunier S; Hospices Civils de Lyon, Unité d'Hémostase clinique Centre de Référence Maladies Hémorragiques Rares (CR-MHR) Groupement Hospitalier Est, Bron Cedex, France., Rezigue H; Laboratoire d'hématologie, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France., Fretigny M; Service d'hématologie biologique, Groupement Hospitalier Centre, Hospices Civils de Lyon, Bron, France., Alotaibi S; Hospices Civils de Lyon, Unité d'Hémostase clinique Centre de Référence Maladies Hémorragiques Rares (CR-MHR) Groupement Hospitalier Est, Bron Cedex, France; Department of Hematology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Neerman-Arbez M; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., de Mazancourt P; UMR1179, Versailles-Saint-Quentin University, Montigny le Bretonneux, France; Biochemistry Laboratory, Ambroise Paré Hospital, APHP Paris-Saclay, Boulogne-Billancourt, France., Casini A; Division of Angiology and Hemostasis, Department of Medicine, University Hospitals of Geneva, University of Geneva, Switzerland.

المصدر: Thrombosis research [Thromb Res] 2024 Sep; Vol. 241, pp. 109106. Date of Electronic Publication: 2024 Jul 30.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2472 (Electronic) Linking ISSN: 00493848 NLM ISO Abbreviation: Thromb Res Subsets: MEDLINE

مواضيع طبية MeSH: Afibrinogenemia*/genetics , Afibrinogenemia*/blood , Mutation, Missense* , Stroke*/genetics , Stroke*/blood, Humans ; Fibrinogen/genetics ; Child, Preschool

المؤلفون: Shangguan S; Department of Medical Genetics, Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China., Zhang X; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China., Ge Y; Department of Medical Genetics, Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China., Han Y; Department of Neurology, Affiliated Children's hospital of Capital Institute of Pediatrics, Beijing, China., Xiao L; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China., Zhang Y; Department of Laboratory Center, Capital Institute of Pediatrics, Beijing, China., Xie H; Department of Medical Genetics, Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China., Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China. xiaolichen@pumc.edu.cn., Wang X; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Yabao Road, Chaoyang District, Beijing, 100020, China. yanziskyv@126.com.

المصدر: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Aug 22; Vol. 299 (1), pp. 81. Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Cutis Laxa*/genetics , Cutis Laxa*/pathology , Pyrroline Carboxylate Reductases*/genetics , Pyrroline Carboxylate Reductases*/metabolism , delta-1-Pyrroline-5-Carboxylate Reductase* , Mutation, Missense*, Humans ; Male ; Female ; Child, Preschool ; Models, Molecular ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Homozygote ; Genes, Recessive ; Mutation

المؤلفون: Emanuelli G; Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom., Zhu J; Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom., Li W; Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Papworth Road, Trumpington, Cambridge CB2 0BB, United Kingdom.; Department of Medicine, University of Cambridge, Addenbrooke's Hospital (Box 157), Hills Road, Cambridge CB2 2QQ, United Kingdom., Morrell NW; Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Papworth Road, Trumpington, Cambridge CB2 0BB, United Kingdom.; Department of Medicine, University of Cambridge, Addenbrooke's Hospital (Box 157), Hills Road, Cambridge CB2 2QQ, United Kingdom.; Royal Papworth Hospital NHS Foundation Trust, Papworth Rd, Trumpington, Cambridge CB2 0AY, United Kingdom., Marciniak SJ; Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom.; Department of Medicine, University of Cambridge, Addenbrooke's Hospital (Box 157), Hills Road, Cambridge CB2 2QQ, United Kingdom.; Royal Papworth Hospital NHS Foundation Trust, Papworth Rd, Trumpington, Cambridge CB2 0AY, United Kingdom.

المصدر: Human molecular genetics [Hum Mol Genet] 2024 Aug 18; Vol. 33 (17), pp. 1495-1505.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Protein Serine-Threonine Kinases*/genetics , Mutation, Missense*/genetics , Pulmonary Arterial Hypertension*/genetics, Humans ; Genetic Predisposition to Disease ; Hypertension, Pulmonary/genetics ; Computational Biology/methods

المؤلفون: Khashei Varnamkhasti K; Department of Medical Laboratory Sciences, Faculty of Medicine, Kazerun branch, Islamic Azad University, Kazerun, Iran., Khashei Varnamkhasti S; Department of Medical Laboratory Sciences, Faculty of Medicine, Kazerun branch, Islamic Azad University, Kazerun, Iran., Shahrouzian A; Department of Genetics, College of Science, Kazerun branch, Islamic Azad University, Kazerun, Iran., Rahimzadeh M; Department of Genetics, College of Science, Kazerun branch, Islamic Azad University, Kazerun, Iran., Naeimi L; Department of Genetics, College of Science, Kazerun branch, Islamic Azad University, Kazerun, Iran., Naeimi B; Department of Medical Laboratory Sciences, Fucalty of Paramedical, Bushehr University of Medical Sciences, Bushehr, Iran., Naeimi S; Department of Biology, Zand Institute of Higher Education, Shiraz, Iran. si.naeimi@iau.ac.ir.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Aug 07; Vol. 17 (1), pp. 200. Date of Electronic Publication: 2024 Aug 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , ZAP-70 Protein-Tyrosine Kinase*/genetics , Genetic Predisposition to Disease* , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Leukemia, Myeloid, Acute*/genetics, Humans ; Case-Control Studies ; Male ; Female ; Adult ; Middle Aged ; Young Adult ; Genotype ; Polymorphism, Single Nucleotide ; Adolescent

المؤلفون: Kovacs AS; The Australian Center for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland, Australia., Portelli S; The Australian Center for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia., Silk M; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Systems and Computational Biology, Bio21 Institute, The University of Melbourne, Melbourne, Australia., Rodrigues CHM; The Australian Center for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia., Ascher DB; The Australian Center for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia.; Systems and Computational Biology, Bio21 Institute, The University of Melbourne, Melbourne, Australia.

المصدر: Protein science : a publication of the Protein Society [Protein Sci] 2024 Aug; Vol. 33 (8), pp. e5112.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9211750 Publication Model: Print Cited Medium: Internet ISSN: 1469-896X (Electronic) Linking ISSN: 09618368 NLM ISO Abbreviation: Protein Sci Subsets: MEDLINE

مواضيع طبية MeSH: Proteome*/chemistry , Proteome*/genetics , Proteome*/analysis , Proteome*/metabolism , Mutation, Missense*, Humans ; Software ; Models, Molecular ; Proteins/chemistry ; Proteins/genetics ; Proteins/metabolism ; Databases, Protein

المؤلفون: Bellamy KKL; The Norwegian Kennel Club, Oslo, Norway., Skedsmo FS; Department of Preclinical Sciences and Pathology, Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Ås, Norway., Hultman J; Department of Companion Animal Clinical Sciences, Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Ås, Norway., Jansen JH; Department of Preclinical Sciences and Pathology, Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Ås, Norway., Lingaas F; Department of Preclinical Sciences and Pathology, Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Ås, Norway.

المصدر: Animal genetics [Anim Genet] 2024 Aug; Vol. 55 (4), pp. 612-620. Date of Electronic Publication: 2024 Jun 12.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neuronal Ceroid-Lipofuscinoses*/genetics , Neuronal Ceroid-Lipofuscinoses*/veterinary , Dog Diseases*/genetics , Mutation, Missense*, Animals ; Dogs/genetics ; Membrane Proteins/genetics ; Male ; Female

المؤلفون: Pan Z; Center for Computational Biology, Flatiron Institute, Simons Foundation, New York, New York, USA., Theesfeld CL; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, USA. Electronic address: chandrat@princeton.edu.

المصدر: Kidney international [Kidney Int] 2024 Aug; Vol. 106 (2), pp. 175-178. Date of Electronic Publication: 2024 Apr 10.

نوع المنشور: Letter; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Humans ; Genetic Predisposition to Disease ; Phenotype

المؤلفون: Liu Z; Center of Reproductive Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China., Wang C; Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.; Center for Genetics, National Research Institute of Family Planning, Beijing, China., Ni F; Medicine Center, 901st hospital of PLA Joint Logistic Support Force, Hefei, China., Li T; Center of Reproductive Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China., Yang F; Industrial College of biomedicine and health industry, Youjiang Medical University for Nationalities, Baise, China., Wei H; Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.; Center for Genetics, National Research Institute of Family Planning, Beijing, China., Li T; Center for Genetics, National Research Institute of Family Planning, Beijing, China., Huang C; Department of Radiology, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China., Wang J; Center of Reproductive Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China.; Industrial College of biomedicine and health industry, Youjiang Medical University for Nationalities, Baise, China., Wang B; Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.; Center for Genetics, National Research Institute of Family Planning, Beijing, China.; NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP), Beijing, China.

المصدر: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2024 Aug; Vol. 28 (8), pp. 337-341. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE

مواضيع طبية MeSH: Homozygote* , Infertility, Male*/genetics , Phenotype* , Mutation, Missense*/genetics , Asian People*/genetics , Sperm Tail*/metabolism , Sperm Tail*/pathology, Humans ; Male ; Adult ; China ; Ciliary Motility Disorders/genetics ; Exome Sequencing/methods ; Pedigree ; Mutation ; Asthenozoospermia/genetics ; East Asian People

المؤلفون: Tam B; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China., Lagniton PNP; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China., Da Luz M; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China., Zhao B; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China., Sinha S; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China., Lei CL; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China., Wang SM; Faculty of Health Sciences, University of Macau, University Avenue, Taipa, Macau SAR 999078, China.

المصدر: Briefings in bioinformatics [Brief Bioinform] 2024 Jul 25; Vol. 25 (5).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , Tumor Suppressor Protein p53*/genetics , Tumor Suppressor Protein p53*/chemistry , Protein Stability*, Humans ; Molecular Dynamics Simulation ; Neoplasms/genetics ; Protein Conformation

المؤلفون: Caballero-Avendaño A; Doctorado en Genética Humana e Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Guadalajara 44340, Mexico., Gutiérrez-Angulo M; Doctorado en Genética Humana e Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Guadalajara 44340, Mexico.; Departamento de Ciencias de la Salud, Centro Universitario de los Altos, Tepatitlán de Morelos 47600, Mexico., Ayala-Madrigal ML; Doctorado en Genética Humana e Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Guadalajara 44340, Mexico., Moreno-Ortiz JM; Doctorado en Genética Humana e Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Guadalajara 44340, Mexico., González-Mercado A; Doctorado en Genética Humana e Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Guadalajara 44340, Mexico., Peregrina-Sandoval J; Instituto de Fisiología Celular del Departamento de Biología Celular y Molecular, Centro Universitario de Ciencias Biológicas y Agropecuarias, Zapopan 45200, Mexico.

المصدر: Genes [Genes (Basel)] 2024 Jul 24; Vol. 15 (8). Date of Electronic Publication: 2024 Jul 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: beta Catenin*/genetics , Mutation, Missense* , Computer Simulation* , Databases, Genetic*, Humans ; Computational Biology/methods ; Protein Processing, Post-Translational/genetics ; Neoplasms/genetics