LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

Authors: Michael P Whyte, Steven Mumm, Jonathan C Baker, Fan Zhang, Homer Sedighi, Shenghui Duan, Tim Cundy

Source: JBMR Plus, Vol 7, Iss 4, Pp n/a-n/a (2023)

Subject Terms: BONE DENSITY, BONE MODELING, DICKKOPF1, DXA, ENDOSTEUM, EXOSTOSIS, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/2473-4039

Access URL: https://doaj.org/article/33b95b6f29a44cfba1e91ac1b29fa69e

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women

Authors: Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte

Source: JBMR Plus, Vol 6, Iss 12, Pp n/a-n/a (2022)

Subject Terms: DISEASES AND DISORDERS RELATED TO BONE, DISORDERS OF CALCIUM/PHOSPHATE METABOLISM, OSTEOMALACIA AND RICKETS, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/2473-4039

Access URL: https://doaj.org/article/6ada1b7fc5a14c7ea4fcadd28a3ccbf2

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

Authors: Katherine U Gaynor, Irina V Grigorieva, Samantha M Mirczuk, Sian E Piret, Kreepa G Kooblall, Mark Stevenson, Karine Rizzoti, Michael R Bowl, M Andrew Nesbit, Paul T Christie, William D Fraser, Tertius Hough, Michael P Whyte, Robin Lovell-Badge, Rajesh V Thakker

Source: Endocrine Connections, Vol 9, Iss 2, Pp 173-186 (2020)

Subject Terms: parathyroid-related disorders, transcription factors, genetic research, genetic animal models, preclinical studies, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/9/2/EC-19-0478.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/dde6581491014fbda33618deed571a84

AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity

Authors: Caroline M. Gorvin, Angela Rogers, Benoit Hastoy, Andrei I. Tarasov, Morten Frost, Silvia Sposini, Asuka Inoue, Michael P. Whyte, Patrik Rorsman, Aylin C. Hanyaloglu, Gerda E. Breitwieser, Rajesh V. Thakker

Source: Cell Reports, Vol 22, Iss 4, Pp 1054-1066 (2018)

Subject Terms: clathrin-mediated endocytosis, adaptor protein-2, GPCR, calcium signaling, hypercalcemia, endosomal signaling, G proteins, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717319265; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/a620aa50861b4760af796663dffcd895

Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic Melorheostosis.

Authors: Mumm, Steven, Wenkert, Deborah, Xiafang Zhang, Mcalister, William H., Mier, Richard J., Michael P. Whyte

Source: Journal of Bone & Mineral Research; Feb2007, Vol. 22 Issue 2, p243-250, 8p, 5 Diagrams, 1 Chart

Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

Authors: Serap Turan, Steven Mumm, Ceren Alavanda, Betul Sare Kaygusuz, Busra Gurpinar Tosun, Ahmet Arman, Margaret Huskey, Tulay Guran, Shenghui Duan, Abdullah Bereket, Michael P. Whyte

Source: JBMR Plus, Vol 6, Iss 8, Pp n/a-n/a (2022)

Subject Terms: BONE TURNOVER, COLONY STIMULATING FACTOR, METAPHYSEAL SCLEROSIS, OSTEOCALCIN, OSTEOPETROSIS, OSTEOSCLEROSIS, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/2473-4039

Access URL: https://doaj.org/article/8154fb917ffb49d3850c595ac9649403

Osteoprotegerin deficiency and aneurysm formation: Case report of iliac artery aneurysms in Juvenile Paget's disease

Authors: Brandon T. Gaston, Elizabeth L. Chou, Aman B. Patel, Mark E. Lindsay, Steven Mumm, Michael P. Whyte, Abhisekh Mohapatra

Source: Annals of Vascular Surgery - Brief Reports and Innovations, Vol 2, Iss 2, Pp 100065- (2022)

Subject Terms: Diseases of the circulatory (Cardiovascular) system, RC666-701, Surgery, RD1-811

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772687822000290; https://doaj.org/toc/2772-6878

Access URL: https://doaj.org/article/41703b9fae96496d83c5fd3f3072e135