المؤلفون: Idrees A. Shah, Hari Prasad, Sanghita Banerjee, Reuben Thomas Kurien, Sudipta Dhar Chowdhury, Sandhya S. Visweswariah

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: pancreatitis, CaSR, FGF23, WES - whole-exome sequencing, TRPV6 (transient receptor potential cation channel subfamily V member 6), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1058057/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/46b3dd9a49ba4d1b9fd1807e4b1344e2

المؤلفون: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren, Elise Gradhand

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: TRPV6 (transient receptor potential cation channel subfamily V member 6), Skeletal dysplasia, Placental calcium transfer, Post-mortem, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01007-z; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/633447845639456a9774bc1ed8d96bed

المؤلفون: Mason, Anna E., Grier, David, Smithson, Sarah F.^{Aff1, Aff3}, Burren, Christine P.^{Aff1, Aff4}, Gradhand, Elise^{Aff5, Aff6}

المصدر: BMC Medical Genetics. 21(1)

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المؤلفون: David Grier, Anna E. Mason, Elise Gradhand, Sarah F. Smithson, Christine P Burren

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Mason, A E, Grier, D, Smithson, S F, Burren, C P & Gradhand, E 2020, ' Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery : a case report ', BMC Medical Genetics, vol. 21, 64 (2020) . https://doi.org/10.1186/s12881-020-01007-z
BMC Medical Genetics
Mason, A, Grier, D J, Smithson, S F, Burren, C P & Gradhand, E 2020, ' Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery : a case report ', BMC Medical Genetics, vol. 21, 64 (2020) . https://doi.org/10.1186/s12881-020-01007-z

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Placental calcium transfer, lcsh:Internal medicine, TRPV6, Bone density, lcsh:QH426-470, TRPV6 (transient receptor potential cation channel subfamily V member 6), DNA Mutational Analysis, Post-mortem, TRPV Cation Channels, Case Report, skeletal dysplasia, placental calcium transfer, Osteochondrodysplasias, Bone and Bones, Calcification, Physiologic, Child Development, Intensive care, Placenta, Journal Article, Genetics, Medicine, Humans, Femur, lcsh:RC31-1245, post-mortem, Genetics (clinical), Rib cage, Bone Development, business.industry, Parturition, Infant, medicine.disease, lcsh:Genetics, medicine.anatomical_structure, Dysplasia, In utero, Skeletal dysplasia, Calcium, Female, Autopsy, Calcium Channels, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354e344bcb58bdd39ee22cc893a4550d
http://link.springer.com/article/10.1186/s12881-020-01007-z

المؤلفون: Doris M, Hummel, Irfete S, Fetahu, Charlotte, Gröschel, Teresa, Manhardt, Enikő, Kállay

المصدر: The Journal of Steroid Biochemistry and Molecular Biology

مصطلحات موضوعية: 15-PGDH, 15-hydroxyprostaglandin dehydrogenase, Article, Mice, PGE2, prostaglandin E2, TNFα, Animals, Humans, IGFBP3, insulin-like growth factor binding protein 3, Vitamin D, CYP24A1, 1,25-dihydroxyvitamin D3 24-hydroxylase, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Inflammation, IL-6, IBD, inflammatory bowel disease, CYP3A4, cytochrome P450, family 3, subfamily A, polypeptide 4, Gene Expression Regulation, Neoplastic, CYP24A1, Cyclooxygenase 2, COX-2, cyclooxygenase-2, Colonic Neoplasms, Cytokines, Calcium Channels, CYP27B1, 25-hydroxyvitamin D3 1α-hydroxylase, Inflammation Mediators, TRPV6, TRPV6, transient receptor potential cation channel, subfamily V, member 6

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7dae2913b26d7505dfd9ac910c01d42a
https://pubmed.ncbi.nlm.nih.gov/24120915