Bing Yang
McGill University
5 Papers
113 Citations
Bing Yang is an academic researcher from McGill University. The author has contributed to research in topics: Calcium-sensing receptor & Mutant. The author has an hindex of 5, co-authored 5 publications.
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Papers
Identification and Functional Characterization of Novel Calcium-Sensing Receptor Mutations in Familial Hypocalciuric Hypercalcemia and Autosomal Dominant Hypocalcemia
Lília D'Souza-Li,Bing Yang,Lucie Canaff,Mei Bai,Mei Bai,David A. Hanley,Murat Bastepe,Murat Bastepe,Sonia R. Salisbury,Edward M. Brown,David E. C. Cole,Geoffrey N. Hendy +11 more
TL;DR: Functional analyses on the novel missense and insertion/frameshift mutants by transiently transfecting wild-type and mutant CASRs tagged with a c-Myc epitope in human embryonic kidney (HEK293) cells identified novel CASR mutations that alter the function of the CASR in several different ways.
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Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the Calcium-Sensing Receptor Gene
Geoffrey N. Hendy,Carla Z. Minutti,Lucie Canaff,Svetlana Pidasheva,Bing Yang,Zaynab Nouhi,Donald Zimmerman,Cuihong Wei,David Ec Cole +8 more
TL;DR: This is the first report of mosaicism for an activating CASR mutation and suggests that care should be exercised in counseling for risks of recurrence in a situation where a de novo mutation appears likely.
42
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
William F. Simonds,Laura James-Newton,Sunita K. Agarwal,Bing Yang,Monica C. Skarulis,Geoffrey N. Hendy,Stephen J. Marx +6 more
TL;DR: Familial hyperparathyroidism (HPT) encompasses a clinically and genetically heterogeneous group of disorders and it was previously speculated that most kindreds with FIH were occult expressions of MEN1.
Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate.
Yanira L. Pagán,Joel N. Hirschhorn,Bing Yang,Lília D'Souza-Li,Joseph A. Majzoub,Geoffrey N. Hendy +5 more
TL;DR: By genetic testing, both infants were shown to have normal calcium-sensing receptor gene alleles, i.e., they had not inherited the activating mutation from their mother, which provided reassurance to the family and ensured that treatment to correct apparent hypocalcemia would not be necessary.
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
TL;DR: The calcium‐sensing receptor (CASR) is a plasma membrane G protein coupled receptor that is expressed in the parathyroid hormone (PTH) producing chief cells of theParathyroid gland and the cells lining the kidney tubule that plays an essential role in maintaining mineral ion homeostasis.