المؤلفون: Inês Gameiro, Catarina Pinto Silva, Marta Machado, Carolina Cordinhã, Carmen do Carmo, Clara Gomes

المصدر: Revista Portuguesa de Nefrologia e Hipertensão, Vol 37, Iss 4, Pp 231-233 (2023)

مصطلحات موضوعية: child, hypocalcemia/genetics, magnesium deficiency/genetics, mutation, seizures/etiology, trpm cation channels/genetics, Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://spnefro.pt/_doi/reference/9647691a-af6d-4f05-ae19-8c1dca77bb6e; https://doaj.org/toc/0872-0169; https://doaj.org/toc/2183-1289

URL الوصول: https://doaj.org/article/b960ef6a74d7475aab4d3f564351a37f

المؤلفون: Christian Siebold, Treena Cranston, Hannah Boon, Tomas Malinauskas, Morten Frost, Fadil M. Hannan, E. Yvonne Jones, Caroline M Gorvin, Rajesh V. Thakker

المصدر: Human Molecular Genetics
HUMAN MOLECULAR GENETICS
Gorvin, C M, Frost, M, Malinauskas, T, Cranston, T, Boon, H, Siebold, C, Yvonne Jones, E, Hannan, F M & Thakker, R V 2018, ' Calcium-sensing receptor residues with loss-and gain-of-function mutations are located in regions of conformational change and cause signalling bias ', Human Molecular Genetics, vol. 27, no. 21, pp. 3720–3733 . https://doi.org/10.1093/hmg/ddy263

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Hypoparathyroidism/congenital, Hypoparathyroidism, Protein Conformation, DNA Mutational Analysis, Hypercalciuria, Biology, medicine.disease_cause, Receptors, Calcium-Sensing/genetics, Calcium in biology, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Genetics, medicine, Humans, Amino Acid Sequence, Calcium Signaling, Molecular Biology, Genetics (clinical), Calcium signaling, Mutation, Hypocalcemia, Kinase, General Medicine, Hypocalcemia/genetics, Hypercalciuria/genetics, Cell biology, 030104 developmental biology, HEK293 Cells, Gain of Function Mutation, Phosphorylation, General Article, Calcium-sensing receptor, Signal transduction, Receptors, Calcium-Sensing, Sequence Alignment, 030217 neurology & neurosurgery, Signal Transduction

وصف الملف: application/msword; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999ed792d9a56955738f1d9770dd7b70
http://ora.ox.ac.uk/objects/uuid:

المصدر: European journal of endocrinology, 165 (2

مصطلحات الفهرس: Sciences biomédicales, Adolescent, Calcium -- metabolism, DNA Mutational Analysis, Female, Homeostasis -- genetics -- physiology, Humans, Hypercalcemia -- genetics, Hypocalcemia -- genetics, Male, Middle Aged, Mutation -- physiology, Pedigree, Receptors, Calcium-Sensing -- genetics, Siblings, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/124768/3/doi_106188.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/124768
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المصدر: European journal of endocrinology, 165 (2

مصطلحات الفهرس: Sciences biomédicales, Adolescent, Calcium -- metabolism, DNA Mutational Analysis, Female, Homeostasis -- genetics -- physiology, Humans, Hypercalcemia -- genetics, Hypocalcemia -- genetics, Male, Middle Aged, Mutation -- physiology, Pedigree, Receptors, Calcium-Sensing -- genetics, Siblings, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/124768/3/doi_106188.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/124768
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL