المؤلفون: Tenzin Gayden, Barbara Rivera, Claudia L. Kleinman, HyeRim Han, Elvis Terci Valera, Leonie G. Mikael, Osama F. Harraz, Ricardo Santiago Gomez, Jonathan Pratt, Andrea Bajic, Eric Bareke, Marina Gonçalves Diniz, Jacek Majewski, Pascal St-Onge, Angelia V. Bassenden, Hamid Nikbakht, Carolina Cavaliéri Gomes, Nada Jabado, Albert M. Berghuis, Wagner Henriques de Castro, Mark T. Nelson, Nicolas De Jay, Daniel Sinnett

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)
Gomes, C, Gayden, T, Bajic, A, Harraz, O, Pratt, J, Nikbakht, H, Bareke, E, Goncalves, M, Castro, W, St-Onge, P, Sinnett, D, Han, H, Rivera, B, Mikael, L, DeJay, N, Kleinman, C, Valera, E, Bassenden, A, Berghuis, A, Majewski, J, Nelson, M, Gomez, R & Jabado, N 2018, ' TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw ', Nature Communications, vol. 9, no. 1, pp. 4572 . https://doi.org/10.1038/s41467-018-06690-4
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Male, Patch-Clamp Techniques, Somatic cell, General Physics and Astronomy, medicine.disease_cause, Jaw Neoplasms/genetics, Whole Exome Sequencing, Receptor, Child, lcsh:Science, Exome sequencing, Giant Cell Tumor of Bone, Multidisciplinary, High-Throughput Nucleotide Sequencing, Middle Aged, Jaw Neoplasms, 3. Good health, Gain of Function Mutation, Female, KRAS, TRPV4, Adult, Giant Cell Tumor of Bone/genetics, Adolescent, MAP Kinase Signaling System, Science, TRPV Cation Channels, TRPV Cation Channels/genetics, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Proto-Oncogene Proteins p21(ras), Proto-Oncogene Proteins p21(ras)/genetics, 03 medical and health sciences, Young Adult, Exome Sequencing, medicine, Humans, Computer Simulation, Receptor, Fibroblast Growth Factor, Type 1, Aged, Receptor, Fibroblast Growth Factor, Type 1/genetics, Sequence Analysis, RNA, HEK 293 cells, General Chemistry, Sequence Analysis, DNA, stomatognathic diseases, 030104 developmental biology, HEK293 Cells, Giant cell, Cancer research, lcsh:Q

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4be0322012f1773bb260e639e107111b
http://link.springer.com/article/10.1038/s41467-018-06690-4

المؤلفون: Villablanca, Andrea

مصطلحات موضوعية: Hyperparathyroidism -- genetics, Multiple endocrine nenoplasia type 1 -- genetics, Parathyroid neoplasms -- genetics, Jaw neoplasms -- genetics, Genetic predisposition to disease

URL الوصول: http://diss.kib.ki.se/2003/91-7349-520-4/

Degree: Diss. (sammanfattning) Stockholm : Karol. inst., 2003

المؤلفون: Frederik J. Hes, Jan Maarten Cobben, Hans Morreau, Romana T. Netea-Maier, Bruce H. R. Wolffenbuttel, Gerlof D. Valk, Karin van der Tuin, Fred H. Menko, Muriel A. Adank, Bernadette P M van Nesselrooij, Neveen A. T. Hamdy, Carli M. J. Tops, Jan C. Oosterwijk, Marjolijn C.J. Jongmans

المساهمون: Medical Genetics, ANS - Cellular & Molecular Mechanisms, Paediatric Genetics, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Clinical Endocrinology and Metabolism, 102, 4534-4540
Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102, 12, pp. 4534-4540
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540
van der Tuin, K, Tops, C M J, Adank, M A, Cobben, J M, Hamdy, N A T, Jongmans, M C, Menko, F H, van Nesselrooij, B P M, Netea-Maier, R T, Oosterwijk, J C, Valk, G D, Wolffenbuttel, B H R, Hes, F J & Morreau, H 2017, ' CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism ', The Journal of clinical endocrinology and metabolism, vol. 102, no. 12, pp. 4534-4540 . https://doi.org/10.1210/jc.2017-01249
The Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. ENDOCRINE SOC

مصطلحات موضوعية: Male, Pediatrics, Hyperparathyroidism, Primary/genetics, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Penetrance, Jaw Neoplasms/genetics, Biochemistry, 0302 clinical medicine, Endocrinology, Child, Parathyroid adenoma, Netherlands, Medicine(all), FAMILIAL ISOLATED HYPERPARATHYROIDISM, JAW TUMOR SYNDROME, Parathyroid Neoplasms/genetics, Middle Aged, Hyperparathyroidism, Primary, CANCER, Jaw Neoplasms, Parathyroid Neoplasms, Parathyroid carcinoma, HRPT2 GENE, 030220 oncology & carcinogenesis, Cohort studies, young adult, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], GENETIC ANALYSES, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Mutation/genetics, Genetic counseling, 030209 endocrinology & metabolism, Context (language use), Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Tumor Suppressor Proteins/genetics, 03 medical and health sciences, Germline mutation, All institutes and research themes of the Radboud University Medical Center, Internal medicine, GERMLINE, medicine, PARATHYROID CARCINOMA, MANAGEMENT, Humans, Germ-Line Mutation, Aged, Retrospective Studies, Hyperparathyroidism, business.industry, MUTATIONS, Tumor Suppressor Proteins, Biochemistry (medical), medicine.disease, PARAFIBROMIN, Mutation, business, aged, 80 and over, Primary hyperparathyroidism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca8796cb0daf1fb908879827070461a
https://doi.org/10.1210/jc.2017-01249

المؤلفون: Marina Gonçalves Diniz, Alessandra Pires Duarte, Bruna Viana Antonini Guimarães, Carolina Cavaliéri Gomes, Silvia Regina Rogatto, Ricardo Santiago Gomez, Luiz Cláudio Pires Duarte, Rolando A R Villacis

المصدر: Diniz, M G, Duarte, A P, Villacis, R A, Guimarães, B V A, Duarte, L C P, Rogatto, S R, Gomez, R S & Gomes, C C 2017, ' Rare copy number alterations and copy-neutral loss of heterozygosity revealed in ameloblastomas by high-density whole-genome microarray analysis ', Journal of Oral Pathology & Medicine, vol. 46, no. 5, pp. 371-376 . https://doi.org/10.1111/jop.12505

مصطلحات موضوعية: 0301 basic medicine, Male, Adult, Cancer Research, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Adolescent, government.form_of_government, ameloblastic carcinoma, Loss of Heterozygosity, Biology, DNA Copy Number Variations/genetics, medicine.disease_cause, Jaw Neoplasms/genetics, Gene dosage, Pathology and Forensic Medicine, Ameloblastoma, Loss of heterozygosity, ameloblastoma, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Child, Gene, Oligonucleotide Array Sequence Analysis, Mutation, Loss of Heterozygosity/genetics, Ameloblastoma/genetics, odontogenic tumor, Odontogenic tumor, medicine.disease, Jaw Neoplasms, whole-genome microarray, Ameloblastic carcinoma, 030104 developmental biology, Otorhinolaryngology, 030220 oncology & carcinogenesis, Genomic Profile, government, Cancer research, Periodontics, Female, Oral Surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6142ad6ae23b7c57867bf2611b64160
https://portal.findresearcher.sdu.dk/da/publications/e9cb25fb-0e82-4eac-90a6-fc53ceae157f

المصدر: Heikinheimo , K , Huhtala , J-M , Thiel , A , Kurppa , K J , Heikinheimo , H , Kovac , M , Kragelund , C , Warfvinge , G , Dawson , H , Elenius , K , Ristimäki , A , Baumhoer , D & Morgan , P R 2019 , ' The Mutational Profile of Unicystic Ameloblastoma ' , Journal of Dental Research , vol. 98 , no. 1 , pp. 54-60 .

مصطلحات الفهرس: Ameloblastoma/genetics, Genetic Markers, Humans, Jaw Neoplasms/genetics, Mitogen-Activated Protein Kinase Kinases, Mutation, Neoplasm Recurrence, Local, Odontogenic Tumors/genetics, Prognosis, Proto-Oncogene Proteins B-raf/genetics, article

URL: https://curis.ku.dk/portal/da/publications/the-mutational-profile-of-unicystic-ameloblastoma(aeaed17d-c36f-4f2a-8b45-05101c39f08a).html
https://doi.org/10.1177/0022034518798810