المؤلفون: Barington M; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Kjartansdóttir KR; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Birkedal U; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Hove HB; Center for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63581. Date of Electronic Publication: 2024 Apr 11.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Alu Elements*/genetics , Microcephaly*/genetics , Microcephaly*/pathology , Zinc Finger E-box Binding Homeobox 2*/genetics , Hirschsprung Disease*/genetics , Hirschsprung Disease*/pathology , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Facies*, Humans ; Male ; Child ; Phenotype ; Mutagenesis, Insertional/genetics ; High-Throughput Nucleotide Sequencing ; Exons/genetics

SCR Disease Name: Mowat-Wilson syndrome

المؤلفون: Li H; College of Special Education and Rehabilitation, Shandong Binzhou Medical University, Yantai 264003, China.; Department of Rehabilitation, Jiangsu Yancheng First People's Hospital, Yancheng 224000, China., Zhang RY; Department of Anesthesiology, Affiliated Hospital of Shandong Binzhou Medical University, Binzhou 256603,China., Li CY; Department of Otolaryngology, Affiliated Hospital of Shandong Binzhou Medical University, Binzhou 256603,China., Zhang XL; Department of Otolaryngology, Affiliated Hospital of Shandong Binzhou Medical University, Binzhou 256603,China., Zheng QY; College of Special Education and Rehabilitation, Shandong Binzhou Medical University, Yantai 264003, China., Liu XZ; Medical Research Center, Affiliated Hospital of Shandong Binzhou Medical University, Binzhou 256603, China.

المصدر: Yi chuan = Hereditas [Yi Chuan] 2024 Jul; Vol. 46 (7), pp. 570-580.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Ke xue chu ban she Country of Publication: China NLM ID: 9436478 Publication Model: Print Cited Medium: Print ISSN: 0253-9772 (Print) Linking ISSN: 02539772 NLM ISO Abbreviation: Yi Chuan Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Dystrophy, Duchenne*/genetics , Alu Elements*/genetics , Dystrophin*/genetics , Mutagenesis, Insertional*, Humans ; Male ; Base Sequence ; Hair/metabolism ; Female ; Exons/genetics ; Child ; Molecular Sequence Data

المؤلفون: Moldovan JB; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Kopera HC; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Liu Y; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Garcia-Canadas M; Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, Pfizer-University of Granada-Andalusian Regional Government, PTS Granada 18016, Spain., Catalina P; Andalusian Public Health System Biobank, Granada 18016, Spain., Leone PE; Genetics and Genomics Laboratory, SOLCA Hospital, Quito, Ecuador., Sanchez L; Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, Pfizer-University of Granada-Andalusian Regional Government, PTS Granada 18016, Spain., Kitzman JO; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA., Kidd JM; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA., Garcia-Perez JL; Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, Pfizer-University of Granada-Andalusian Regional Government, PTS Granada 18016, Spain., Moran JV; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jul 22; Vol. 52 (13), pp. 7761-7779.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Alu Elements*/genetics , Long Interspersed Nucleotide Elements*/genetics, Humans ; HeLa Cells ; Short Interspersed Nucleotide Elements/genetics ; Animals ; Retroelements/genetics ; RNA/genetics ; RNA/metabolism ; RNA, Transfer/genetics ; RNA, Transfer/metabolism ; Zebrafish/genetics

المؤلفون: Rodney A; Lab Medicine and Pathology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota, USA., Karanjeet K; Lab Medicine and Pathology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota, USA., Benzow K; Lab Medicine and Pathology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota, USA., Koob MD; Lab Medicine and Pathology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota, USA.

المصدر: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2024 Jul; Vol. 20 (7), pp. 5071-5077. Date of Electronic Publication: 2024 Jun 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE

مواضيع طبية MeSH: Dementia*/genetics , 3' Untranslated Regions*/genetics , Alu Elements*/genetics , Membrane Proteins*/genetics , Haplotypes* , Nerve Tissue Proteins*/genetics, Humans ; Animals ; Mice ; Genetic Predisposition to Disease/genetics ; Mice, Transgenic ; Alleles ; Mutagenesis, Insertional

المؤلفون: Lee K; Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Republic of Korea., Ku J; Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Republic of Korea., Ku D; Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Republic of Korea., Kim Y; Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Republic of Korea. ysyoosik@kaist.ac.kr.; Graduate School of Engineering Biology, KAIST, Daejeon, 34141, Republic of Korea. ysyoosik@kaist.ac.kr.; KAIST Institute for BioCentury (KIB), Daejeon, 34141, Republic of Korea. ysyoosik@kaist.ac.kr.; KAIST Institute for Health Science and Technology (KIHST), Daejeon, 34141, Republic of Korea. ysyoosik@kaist.ac.kr.; BioProcess Engineering Research Center and BioInformatics Research Center, KAIST, Daejeon, 34141, Republic of Korea. ysyoosik@kaist.ac.kr.

المصدر: Experimental & molecular medicine [Exp Mol Med] 2024 Jun; Vol. 56 (6), pp. 1250-1262. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9607880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-6413 (Electronic) Linking ISSN: 12263613 NLM ISO Abbreviation: Exp Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Alu Elements*/genetics , Transcriptome*, Humans ; Gene Expression Regulation ; RNA, Double-Stranded/genetics ; RNA, Double-Stranded/metabolism ; Animals ; RNA, Circular/genetics ; Inverted Repeat Sequences ; RNA-Binding Proteins/metabolism ; RNA-Binding Proteins/genetics ; RNA Editing

المؤلفون: Esposito S; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Zollo I; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Villella VR; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Scialò F; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy; Department of Translational Medical Science, University of Campania Luigi Vanvitelli, Naples, Italy., Giordano S; AORN Ospedali dei Colli-Monaldi-Cotugno-CTO, Naples, Italy., Esposito MV; ASL Napoli 1 Centro, Naples, Italy., Salemme N; San Giuseppe and Melorio Hospital, Santa Maria Capua Vetere, Caserta, Italy., Di Domenico C; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Cernera G; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Zarrilli F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Castaldo G; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy., Amato F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies Franco Salvatore, Naples, Italy. Electronic address: felice.amato@unina.it.

المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 May 15; Vol. 558, pp. 118317. Date of Electronic Publication: 2024 Apr 04.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis Transmembrane Conductance Regulator*/genetics , Alu Elements*/genetics , Cystic Fibrosis*/genetics , Cystic Fibrosis*/diagnosis , Genetic Testing*/methods, Humans ; Infant, Newborn ; Male ; Female

المؤلفون: Fröhlich A; Department of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.; Perron Institute for Neurological and Translational Science, Perth, WA, Australia., Pfaff AL; Perron Institute for Neurological and Translational Science, Perth, WA, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia., Middlehurst B; Department of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK., Hughes LS; Department of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK., Bubb VJ; Department of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK., Quinn JP; Department of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK. jquinn@liverpool.ac.uk., Koks S; Perron Institute for Neurological and Translational Science, Perth, WA, Australia. sulev.Koks@murdoch.edu.au.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia. sulev.Koks@murdoch.edu.au.

المصدر: Scientific reports [Sci Rep] 2024 May 13; Vol. 14 (1), pp. 10932. Date of Electronic Publication: 2024 May 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/genetics , Disease Progression* , Polymorphism, Genetic* , Minisatellite Repeats*/genetics , Retroelements*/genetics , Alu Elements*/genetics, Humans ; Quantitative Trait Loci ; Biomarkers ; Short Interspersed Nucleotide Elements/genetics

المؤلفون: Khan M; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Shah S; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Lv B; Department of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.; Hubei Province Key Laboratory of Molecular Imaging, Wuhan, Hubei Province, China., Lv Z; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Ji N; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Song Z; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Wu P; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Wang X; Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China., Mehmood A; Department of Neurology, the Second Hospital of Hebei Medical University, City Shijiazhuang, P.R. China.

المصدر: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2023 Nov; Vol. 31 (9), pp. 1848-1858. Date of Electronic Publication: 2022 Aug 30.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9312169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5078 (Electronic) Linking ISSN: 09273948 NLM ISO Abbreviation: Ocul Immunol Inflamm Subsets: MEDLINE

مواضيع طبية MeSH: Alu Elements*/genetics , Eye Diseases*/diagnosis , Eye Diseases*/genetics, Humans ; Long Interspersed Nucleotide Elements/genetics ; Interspersed Repetitive Sequences

المؤلفون: Anania C; Nature Genetics, . chiara.anania@nature.com.

المصدر: Nature genetics [Nat Genet] 2023 Sep; Vol. 55 (9), pp. 1421.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Alu Elements*/genetics , Regulatory Sequences, Nucleic Acid*, Promoter Regions, Genetic

المؤلفون: Gameel AM; Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo 11796, Egypt. Electronic address: abdallah.mohamed@nci.cu.edu.eg., Talaat RM; Molecular Diagnostics and Therapeutics Department, Genetic Engineering and Biotechnology Research Institute, Sadat University, Egypt., Sakr MA; Molecular Diagnostics and Therapeutics Department, Genetic Engineering and Biotechnology Research Institute, Sadat University, Egypt., Selim MA; Immunology Botany and Microbiology Department, Faculty of Science (boys), AL-Azhar University, Egypt., Abo Alil DFA; Menoufia University Hospital, Menoufia, Egypt., Elkhouly EA; Department of Clinical Oncology, Faculty of Medicine, Menoufia University, Menoufia, Egypt.

المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Aug 15; Vol. 562, pp. 119878. Date of Electronic Publication: 2024 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Breast Neoplasms*/blood , Breast Neoplasms*/diagnosis , Breast Neoplasms*/genetics , Biomarkers, Tumor*/blood , Neoplasm Recurrence, Local*/blood , Neoplasm Recurrence, Local*/diagnosis , Circulating Tumor DNA*/blood, Humans ; Female ; Egypt ; Middle Aged ; Adult ; Alu Elements/genetics ; Mucin-1/blood ; Carcinoembryonic Antigen/blood ; Case-Control Studies