Literature DB >> 24311792

Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

Geoffrey N Hendy1, David E C Cole.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24311792      PMCID： PMC3849666          DOI： 10.1210/jc.2013-3616

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


× No keyword cloud information.
  15 in total

Review 1.  Clinical lessons from the calcium-sensing receptor.

Authors:  Edward M Brown
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2007-02

2.  Germline mutations affecting Gα11 in hypoparathyroidism.

Authors:  Michael Mannstadt; Mark Harris; Bert Bravenboer; Sridhar Chitturi; Koen M A Dreijerink; David G Lambright; Elaine T Lim; Mark J Daly; Stacey Gabriel; Harald Jüppner
Journal:  N Engl J Med       Date:  2013-06-27       Impact factor: 91.245

3.  A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.

Authors:  A Lienhardt; M Garabédian; M Bai; C Sinding; Z Zhang; J P Lagarde; J Boulesteix; M Rigaud; E M Brown; M L Kottler
Journal:  J Clin Endocrinol Metab       Date:  2000-04       Impact factor: 5.958

4.  Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.

Authors:  D E Cole; N Janicic; S R Salisbury; G N Hendy
Journal:  Am J Med Genet       Date:  1997-08-08

Review 5.  Calcium-sensing receptor and associated diseases.

Authors:  Geoffrey N Hendy; Vito Guarnieri; Lucie Canaff
Journal:  Prog Mol Biol Transl Sci       Date:  2009-10-07       Impact factor: 3.622

6.  Mild infantile hypercalcemia: diagnostic tests and outcomes.

Authors:  Dror Koltin; Marianna Rachmiel; Betty Y L Wong; David E C Cole; Elizabeth Harvey; Etienne Sochett
Journal:  J Pediatr       Date:  2011-03-17       Impact factor: 4.406

7.  Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

Authors:  Vito Guarnieri; Lucie Canaff; Francisco H J Yun; Alfredo Scillitani; Claudia Battista; Lucia A Muscarella; Betty Y L Wong; Angelantonio Notarangelo; Leonardo D'Agruma; Michele Sacco; David E C Cole; Geoffrey N Hendy
Journal:  J Clin Endocrinol Metab       Date:  2010-02-17       Impact factor: 5.958

8.  Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.

Authors:  Yasuko Fujisawa; Rie Yamaguchi; Eiichirou Satake; Konosuke Ohtaka; Toshiki Nakanishi; Keiichi Ozono; Tsutomu Ogata
Journal:  J Clin Endocrinol Metab       Date:  2013-09-30       Impact factor: 5.958

9.  Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Authors:  M Andrew Nesbit; Fadil M Hannan; Sarah A Howles; Valerie N Babinsky; Rosie A Head; Treena Cranston; Nigel Rust; Maurine R Hobbs; Hunter Heath; Rajesh V Thakker
Journal:  N Engl J Med       Date:  2013-06-27       Impact factor: 91.245

10.  Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Authors:  M Andrew Nesbit; Fadil M Hannan; Sarah A Howles; Anita A C Reed; Treena Cranston; Clare E Thakker; Lorna Gregory; Andrew J Rimmer; Nigel Rust; Una Graham; Patrick J Morrison; Steven J Hunter; Michael P Whyte; Gil McVean; David Buck; Rajesh V Thakker
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330
View more
  3 in total

1.  Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors:  G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal:  J Endocrinol Invest       Date:  2014-11-07       Impact factor: 4.256

2.  Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Authors:  Fadil M Hannan; Sarah A Howles; Angela Rogers; Treena Cranston; Caroline M Gorvin; Valerie N Babinsky; Anita A Reed; Clare E Thakker; Detlef Bockenhauer; Rosalind S Brown; John M Connell; Jacqueline Cook; Ken Darzy; Sarah Ehtisham; Una Graham; Tony Hulse; Steven J Hunter; Louise Izatt; Dhavendra Kumar; Malachi J McKenna; John A McKnight; Patrick J Morrison; M Zulf Mughal; Domhnall O'Halloran; Simon H Pearce; Mary E Porteous; Mushtaqur Rahman; Tristan Richardson; Robert Robinson; Isabelle Scheers; Haroon Siddique; William G Van't Hoff; Timothy Wang; Michael P Whyte; M Andrew Nesbit; Rajesh V Thakker
Journal:  Hum Mol Genet       Date:  2015-06-16       Impact factor: 6.150

3.  Role of adaptin protein complexes in intracellular trafficking and their impact on diseases.

Authors:  Juhyun Shin; Arti Nile; Jae-Wook Oh
Journal:  Bioengineered       Date:  2021-12       Impact factor: 3.269
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.