المؤلفون: Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M

المساهمون: Consortium, Genomics England Research

العلاقة: https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40Test; https://doi.org/10.1016/j.ajhg.2020.11.015Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.015Test
https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40Test

المؤلفون: Lin, YC, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, NM, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, RB, Tartaglia, M

المصدر: American Journal of Human Genetics , 108 (1) pp. 115-133. (2021)

مصطلحات موضوعية: SCUBE, BMP, BMP receptors, bone morphogenetic protein, skeletal development, morphogenesis, genomic sequencing, mechanism of disease, intracellular signaling

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158748Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10158748Test/

المؤلفون: Halloun R., Galderisi A., Caprio S., Weiss R.

المساهمون: Halloun, R., Galderisi, A., Caprio, S., Weiss, R.

مصطلحات موضوعية: adipose insulin sensitivity, carbohydrate-insulin model, insulin resistance

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000901386500001; volume:108; issue:5; firstpage:1053; lastpage:1060; numberofpages:8; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; https://hdl.handle.net/11577/3494703Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152488579

الإتاحة: https://doi.org/10.1210/clinem/dgac700Test
https://hdl.handle.net/11577/3494703Test

المؤلفون: Halloun R., Galderisi A., Caprio S., Weiss R.

المساهمون: Halloun, R., Galderisi, A., Caprio, S., Weiss, R.

مصطلحات موضوعية: Adolescent, Blood Glucose, Body Mass Index, Child, Female, Human, Insulin, Longitudinal Studie, Male, Hyperinsulinism, Insulin Resistance, Pediatric Obesity

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35235641; info:eu-repo/semantics/altIdentifier/wos/WOS:000886431800018; volume:45; issue:6; firstpage:1400; lastpage:1407; numberofpages:8; journal:DIABETES CARE; http://hdl.handle.net/11577/3455763Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131271000

الإتاحة: https://doi.org/10.2337/dc21-2210Test
http://hdl.handle.net/11577/3455763Test

المؤلفون: Magen D., Halloun R., Galderisi A., Caprio S., Weiss R.

المساهمون: Magen, D., Halloun, R., Galderisi, A., Caprio, S., Weiss, R.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34725443; info:eu-repo/semantics/altIdentifier/wos/WOS:000713587700001; journal:INTERNATIONAL JOURNAL OF OBESITY; http://hdl.handle.net/11577/3409675Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118375529

الإتاحة: https://doi.org/10.1038/s41366-021-01001-2Test
http://hdl.handle.net/11577/3409675Test

المؤلفون: Lin, Y.C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A.T., Maroofian, R., Beetz, C., Duyvenvoorde, H. van, Dentici, M.L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Gruning, N.M., Bellacchio, E., Fattore, A. del, Petrini, S., Shaheen, R., Tiosano, D., Halloun, R., Pode-Shakked ben, Albayrak, H.M., Isik, E., Wit, J.M., Dittrich, M., Freire, B.L., Bertola, D.R., Jorge, A.A.L., Barel, O., Sabir, A.H., Tenaiji, A.M.J. al, Taji, S.M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M.C., Irving, M., Anikster, Y., Bhavani, G.S.L., Girisha, K.M., Haaf, T., Taylor, J.C., Dallapiccola, B., Alkuraya, F.S., Yang, R.B., Tartaglia, M., Genomics England Res Consortium

المساهمون: Consortium, Genomics England Research, Graduate School, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: American Journal of Human Genetics, 108(1), 115-133. CELL PRESS
American journal of human genetics, 108(1), 115-133. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, SCUBE, Developmental Disabilities, mechanism of disease, Morphogenesis, Bone Morphogenetic Protein 2, morphogenesis, Bone Morphogenetic Protein 4, Biology, Bone morphogenetic protein, Bone morphogenetic protein 2, Article, Bone and Bones, Cell Line, Mice, 03 medical and health sciences, 0302 clinical medicine, Osteogenesis, Cell Line, Tumor, bone morphogenetic protein, Genetics, Animals, Humans, BMP, Receptor, Genetics (clinical), Loss function, Mice, Inbred C3H, Calcium-Binding Proteins, intracellular signaling, Gene Expression Regulation, Developmental, skeletal development, Hep G2 Cells, Chondrogenesis, Phenotype, Endochondral bone growth, Cell biology, Mice, Inbred C57BL, HEK293 Cells, 030104 developmental biology, Bone Morphogenetic Proteins, genomic sequencing, MCF-7 Cells, Intercellular Signaling Peptides and Proteins, Female, BMP receptors, 030217 neurology & neurosurgery, Signal Transduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3485b0a21a8d7dc54b6eb09e83fac7aaTest
https://hdl.handle.net/1887/3195923Test