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Literature DB >> 30390815

Genetic Disorders of Parathyroid Development and Function.

Abstract

Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone. Hypoparathyroidism may be an isolated condition or a component of a complex syndrome. Although genetic disorders are not the most common cause of hypoparathyroidism, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone, or postnatal destruction of the parathyroid glands.

Entities: Chemical Disease Gene Mutation Species

Keywords: Etiologies; Genetics; Hypoparathyroidism; Parathyroid hormone

Mesh：

Substances：
Parathyroid Hormone

Year: 2018 PMID： 30390815 PMCID： PMC6233988 DOI： 10.1016/j.ecl.2018.07.007

Source DB: PubMed Journal: Endocrinol Metab Clin North Am ISSN： 0889-8529 Impact factor: 4.741

86 in total

1. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Authors: R W Bilous; G Murty; D B Parkinson; R V Thakker; M G Coulthard; J Burn; D Mathias; P Kendall-Taylor
Journal: N Engl J Med Date: 1992-10-08 Impact factor: 91.245

Review 2. Clinical review 93: Autoimmune polyglandular syndrome type 1.

Authors: C Betterle; N A Greggio; M Volpato
Journal: J Clin Endocrinol Metab Date: 1998-04 Impact factor: 5.958

3. Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome.

Authors: Sachiko Fujii; Toshio Nakanishi
Journal: Pediatr Int Date: 2015-11-26 Impact factor: 1.524

Review 4. Velo-cardio-facial syndrome.

Authors: Robert J Shprintzen; Anne Marie Higgins; Kevin Antshel; Wanda Fremont; Nancy Roizen; Wendy Kates
Journal: Curr Opin Pediatr Date: 2005-12 Impact factor: 2.856

5. Genetic homogeneity of autoimmune polyglandular disease type I.

Authors: P Björses; J Aaltonen; A Vikman; J Perheentupa; G Ben-Zion; G Chiumello; N Dahl; P Heideman; J J Hoorweg-Nijman; L Mathivon; P E Mullis; M Pohl; M Ritzen; G Romeo; M S Shapiro; C S Smith; J Solyom; J Zlotogora; L Peltonen
Journal: Am J Hum Genet Date: 1996-10 Impact factor: 11.025

6. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.

Authors: Soma Jyonouchi; Donna M McDonald-McGinn; Sherri Bale; Elaine H Zackai; Kathleen E Sullivan
Journal: Pediatrics Date: 2009-05 Impact factor: 7.124

7. Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism.

Authors: Neeraj Tomar; Nandita Gupta; Ravinder Goswami
Journal: J Clin Endocrinol Metab Date: 2013-07-19 Impact factor: 5.958

8. Polyglandular autoimmune syndrome type I among Iranian Jews.

Authors: J Zlotogora; M S Shapiro
Journal: J Med Genet Date: 1992-11 Impact factor: 6.318

9. Auditory and vestibular phenotypes associated with GATA3 mutation.

Authors: Wade Wei-De Chien; Jennifer W Leiding; Amy P Hsu; Christopher Zalewski; Kelly King; Steven M Holland; Carmen Brewer
Journal: Otol Neurotol Date: 2014-04 Impact factor: 2.311

10. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Authors: Misako Naiki; Nobuhiko Ochi; Yusuke S Kato; Jamiyan Purevsuren; Kenichiro Yamada; Reiko Kimura; Daisuke Fukushi; Shinya Hara; Yasukazu Yamada; Toshiyuki Kumagai; Seiji Yamaguchi; Nobuaki Wakamatsu
Journal: Am J Med Genet A Date: 2014-03-24 Impact factor: 2.802

8 in total

Review 1. Hypoparathyroidism.

Authors: John P Bilezikian
Journal: J Clin Endocrinol Metab Date: 2020-06-01 Impact factor: 5.958

Genetic Disorders of Parathyroid Development and Function.

1. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Review 2. Clinical review 93: Autoimmune polyglandular syndrome type 1.

3. Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome.

Review 4. Velo-cardio-facial syndrome.

5. Genetic homogeneity of autoimmune polyglandular disease type I.

6. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.

7. Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism.

8. Polyglandular autoimmune syndrome type I among Iranian Jews.

9. Auditory and vestibular phenotypes associated with GATA3 mutation.

10. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Review 1. Hypoparathyroidism.

Review 2. Genetic Disorders of Parathyroid Development and Function.

3. Primary Hypoparathyroidism Presenting as Idiopathic Intracranial Hypertension in a Patient With Barakat Syndrome.

4. Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.

Review 5. Calcium Transport in the Kidney and Disease Processes.

Review 6. Selected Topics in the Pathology of the Thyroid and Parathyroid Glands in Children and Adolescents.

7. Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.

Review 8. The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.