المؤلفون: Karen A. Nahmod, Guilin Tang, Shaoying Li, Carlos Torres‐Cabala, Jie Xu

المصدر: eJHaem, Vol 5, Iss 1, Pp 264-265 (2024)

مصطلحات موضوعية: lymphoma, Mycosis Fungoides, TP63 rearrangement, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2688-6146Test

الوصول الحر: https://doaj.org/article/84812179e5ed44ac9f90564542dcff63Test

المؤلفون: Tucker, Elena J., Gutfreund, Niklas, Belaud-Rotureau, Marc-Antoine, Gilot, David, Brun, Tiffany, Kline, Brianna L, Bell, Katrina M, Domin-Bernhard, Mathilde, Théard, Camille, Touraine, Philippe, Robevska, Gorjana, van van den Bergen, Jocelyn, Ayers, K, Sinclair, Andrew H., Dotsch, Volker, Jaillard, Sylvie

المساهمون: University of Melbourne, Murdoch Children's Research Institute (MCRI), Institute of Biochemistry and Signal Transduction Hamburg, Germany, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, CRLCC Eugène Marquis (CRLCC), UNICANCER, Oncogenesis, Stress, Signaling (OSS), Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC), UNICANCER-UNICANCER-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence Maladies Rares CLAD-Ouest Rennes, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), This study was supported by a CHU Rennes grant (Appel à Projets Innovations 2019 to SJ), an Australian National Health and Medical Research Council (NHMRC) program grant (1074258 to AHS), NHMRC fellowships (1054432 to EJT, 1062854 to AHS), a Suzi Carp postdoctoral scholarship (to EJT) and the Deutsche Forschungsgemeinschaft (DO 545/18-1). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian government's operational infrastructure support program. We thank the Bioinformatic department of Rennes University Hospital (Pr M. De Tayrac and Dr W. Carré) for technical assistance. Open access publishing facilitated by The University of Melbourne, as part of the Wiley - The University of Melbourne agreement via the Council of Australian University Librarians.

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: TAp63α, TP63, genomic diagnosis, infertility, p63 isoforms, premature ovarian insufficiency, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35801529; hal-03771906; https://hal.science/hal-03771906Test; https://hal.science/hal-03771906/documentTest; https://hal.science/hal-03771906/file/Human%20Mutation%20-%202022%20-%20Tucker%20-%20Dominant%20TP63%20missense%20variants%20lead%20to%20constitutive%20activation%20and%20premature%20ovarian.pdfTest; PUBMED: 35801529

الإتاحة: https://doi.org/10.1002/humu.24432Test
https://hal.science/hal-03771906Test
https://hal.science/hal-03771906/documentTest
https://hal.science/hal-03771906/file/Human%20Mutation%20-%202022%20-%20Tucker%20-%20Dominant%20TP63%20missense%20variants%20lead%20to%20constitutive%20activation%20and%20premature%20ovarian.pdfTest

المؤلفون: Yannick Hurni, Martina Marangoni, Giulia Garofalo, Marie Cassart, Lisa Tomasi, Isabelle Vandernoot, Guillaume Smits, Caroline Gounongbé

المصدر: Clinical Case Reports, Vol 9, Iss 8, Pp n/a-n/a (2021)

مصطلحات موضوعية: EEC syndrome, fetal medicine, hydrops fetalis, LZTR1 gene, TP63 gene, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/b3855d6d66714d9e9c0da74b0837f4f8Test

المؤلفون: Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: chromosome translocation, split hand/foot malformation, TP63, whole genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/8aabc3f6108e4d58884ce46f6b87e148Test

المؤلفون: Jinglei Zheng, Haochen Liu, Yuan Zhan, Yang Liu, Sing‐Wai Wong, Tao Cai, Hailan Feng, Dong Han

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)

مصطلحات موضوعية: AEC syndrome, EEC syndrome, genotype–phenotype correlation, taurodontism, TP63, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/f526f4478e254972b25c3a1bc9f66374Test

المؤلفون: Childs, Alexandra J., Mabin, David C., Turnpenny, Peter D.

مصطلحات موضوعية: EEC syndrome, TP63, choanal atresia, ectrodactyly-ectodermal dysplasia-clefting syndrome, rectal stenosis

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1002/ajmg.a.61628Test; Childs AJ, Mabin DC, Turnpenny PD. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Am J Med Genet A. 2020 Aug;182(8):1939-1943. doi:10.1002/ajmg.a.61628. Epub 2020 May 31.; https://rde.dspace-express.com/handle/11287/621557Test; American Journal of Medical Genetics. Part A.

الإتاحة: https://doi.org/10.1002/ajmg.a.61628Test
https://rde.dspace-express.com/handle/11287/621557Test

المؤلفون: Lina Tan, Lihua Gao, Aiyuan Guo, Shu Ding, Bo Zhang, Ziqiang Luo, Caifeng Yang, Jianyun Lu, Haipeng Cheng, Li Lei, Jinrong Zeng, Jianhua Dou, Qinghai Zeng, Qingmei Cheng

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: Adult, Keratinocytes, Male, 0301 basic medicine, Primary Cell Culture, Apoptosis, Dermatitis, keratin 6 (KRT6)/KRT10, Mice, 03 medical and health sciences, Ozone, 0302 clinical medicine, Transcription (biology), Psoriasis, TP63, Keratin, medicine, Animals, Humans, Viability assay, Tp63, Cell Proliferation, Skin, ozone therapy, chemistry.chemical_classification, Messenger RNA, business.industry, Tumor Suppressor Proteins, Keratin-6, Cell Differentiation, Promoter, Original Articles, Cell Biology, Keratin-10, Ozone therapy, medicine.disease, Disease Models, Animal, 030104 developmental biology, chemistry, 030220 oncology & carcinogenesis, Cancer research, Molecular Medicine, Female, Original Article, business, Transcription Factors, keratinocytes (KCs)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b9df497e1eac95e5f939f47b1bf388eTest
https://doi.org/10.1111/jcmm.15160Test

المؤلفون: Jun Chen, Xiongfei Li, Song Xu, Yanye Wang, Ming Dong, Dian Ren, Gang Chen, Fan Ren, Zuoqing Song

المصدر: Cancer Medicine, Vol 9, Iss 20, Pp 7686-7694 (2020)
Cancer Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Mutation rate, Candidate gene, Lung Neoplasms, DNA Mutational Analysis, Disease, surgery, 0302 clinical medicine, Gene Frequency, Carcinoma, Non-Small-Cell Lung, Medicine, database, Original Research, Cancer Biology, Middle Aged, Prognosis, early stage, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 030220 oncology & carcinogenesis, Adenocarcinoma, Female, medicine.medical_specialty, lcsh:RC254-282, 03 medical and health sciences, Internal medicine, TP63, Biomarkers, Tumor, genomics, Adjuvant therapy, Humans, Radiology, Nuclear Medicine and imaging, Lung cancer, Alleles, Aged, Neoplasm Staging, business.industry, Proportional hazards model, Genetic Variation, medicine.disease, Survival Analysis, respiratory tract diseases, lung cancer, 030104 developmental biology, Mutation, Tumor Suppressor Protein p53, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a223700e21b2598eccfb2ab2784fd801Test
https://doi.org/10.1002/cam4.3403Test

المؤلفون: Peter D. Turnpenny, David C. Mabin, Alexandra J. Childs

المصدر: American Journal of Medical Genetics Part A. 182:1939-1943

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ectodermal dysplasia, Ectrodactyly, business.industry, Choanal atresia, Aplasia, 030105 genetics & heredity, medicine.disease, Dermatology, Bilateral choanal atresia, 03 medical and health sciences, CHARGE syndrome, 030104 developmental biology, medicine.anatomical_structure, Scalp, TP63, otorhinolaryngologic diseases, Genetics, medicine, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::25cd47617e3c6f43fc6ccbee6c185711Test
https://doi.org/10.1002/ajmg.a.61628Test

المؤلفون: Ryan Weber, Ariadne Letra, Jacqueline T. Hecht, Lorena Maili, Susan H. Blanton, Steven J. Blackwell, Matthew R. Greives, John B. Mulliken, Edward P. Buchanan, Rohit Ummer, Brett Chiquet, Renato M Silva, John F. Teichgraeber

المصدر: Birth Defects Res

مصطلحات موضوعية: 0301 basic medicine, Embryology, Cleft Lip, Health, Toxicology and Mutagenesis, 030105 genetics & heredity, Biology, Toxicology, Polymorphism, Single Nucleotide, Genetic pathways, Article, Mice, 03 medical and health sciences, Proto-Oncogene Proteins, TP63, Animals, Humans, Genetic Predisposition to Disease, Craniofacial, Family history, Wnt Signaling Pathway, Homeodomain Proteins, Genetics, Tumor Suppressor Proteins, Pre-B-Cell Leukemia Transcription Factor 1, Haplotype, Infant, Newborn, Wnt signaling pathway, Cleft Palate, 030104 developmental biology, Interferon Regulatory Factors, Pediatrics, Perinatology and Child Health, Trans-Activators, Etiology, IRF6, Transcription Factors, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d08ddad0dbb8fa90e09c43c1a8e3305Test
https://doi.org/10.1002/bdr2.1630Test