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Quoted phrase not found in phrase index: "Autosomal dominant hypocalcemia 1"
Page 1
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. ...Osteope …
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of …
Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H. Jüppner H. J Clin Endocrinol Metab. 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. J Clin Endocrinol Metab. 2021. PMID: 33529330 Free PMC article. Review.
PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these maternal GNAS mutations cause PTH-resistant hypocalcemia and hyperphosphatemia because paternal Gsalpha expression is suppressed in certai …
PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these mater …
Barakat syndrome.
Berkešová BA, Borbély Z. Berkešová BA, et al. Vnitr Lek. 2023 Summer;69(E-3):16-19. doi: 10.36290/vnl.2023.036. Vnitr Lek. 2023. PMID: 37468331 English.
Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which frequency is unknown. ...Although this syndrome is phenotypically defined by its triad of HDR: hypoparathyroidism (H), deafness (D), renal dise …
Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which fre …
Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.
Roszko KL, Stapleton Smith LM, Sridhar AV, Roberts MS, Hartley IR, Gafni RI, Collins MT, Fox JC, Nemeth EF. Roszko KL, et al. J Bone Miner Res. 2022 Oct;37(10):1926-1935. doi: 10.1002/jbmr.4659. Epub 2022 Aug 22. J Bone Miner Res. 2022. PMID: 35879818 Free PMC article.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the calcium-sensing receptor gene (CASR). ...In patients with blood and urine chemistries available at the time of diagnosis (n = 91), h …
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous ( …
The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hy …
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center. Dershem R, et al. Am J Hum Genet. 2020 Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386559 Free PMC article.
CASR loss- or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia type 1 (ADH1), respectively, but the population prevalence of FHH1 or ADH1 is unknown. ...Functional studies sho …
CASR loss- or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant …
Inherited disorders of renal magnesium handling.
Cole DEC, Quamme GA. Cole DEC, et al. J Am Soc Nephrol. 2000 Oct;11(10):1937-1947. doi: 10.1681/ASN.V11101937. J Am Soc Nephrol. 2000. PMID: 11004227 Review.
This review correlates the clinical pathophysiology with the primary defect and secondary changes in cellular electrolyte transport. The described disorders include (1) hypomagnesemia with secondary hypocalcemia, an earlyonset, autosomal-recessive disease seg …
This review correlates the clinical pathophysiology with the primary defect and secondary changes in cellular electrolyte transport. The des …
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, Fraga-Rodriguez GM, Hureaux M, Bos C, Latta F, Houillier P, Hoenderop JGJ, de Baaij JHF. Vargas-Poussou R, et al. Nephrol Dial Transplant. 2023 Feb 28;38(3):679-690. doi: 10.1093/ndt/gfac182. Nephrol Dial Transplant. 2023. PMID: 35561741 Free PMC article.
Patients suffer from seizures and muscle cramps due to magnesium deficiency and episodes of hypocalcaemia. In the first family, a splice site variant caused the incorporation of intron 1 sequences into the TRPM7 messenger RNA and generated a premature stop codon. .. …
Patients suffer from seizures and muscle cramps due to magnesium deficiency and episodes of hypocalcaemia. In the first family, a spl …
Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia.
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Nesbit MA, et al. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253. N Engl J Med. 2013. PMID: 23802516 Free PMC article.
We also postulated that mutations effecting Galpha11 gain of function, like the mutations effecting calcium-sensing receptor gain of function that cause autosomal dominant hypocalcemia type 1, may lead to hypocalcemia. METHODS: We performed GNA1 …
We also postulated that mutations effecting Galpha11 gain of function, like the mutations effecting calcium-sensing receptor gain of functio …
Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.
Zung A, Barash G, Banne E, Levine MA. Zung A, et al. Horm Res Paediatr. 2023;96(5):473-482. doi: 10.1159/000529833. Epub 2023 Feb 22. Horm Res Paediatr. 2023. PMID: 36812896 Free PMC article.
INTRODUCTION: Activating mutation of the calcium-sensing receptor gene (CASR) reduces parathyroid hormone secretion and renal tubular reabsorption of calcium, defined as autosomal dominant hypocalcemia type 1 (ADH1). Patients with ADH1 may present with …
INTRODUCTION: Activating mutation of the calcium-sensing receptor gene (CASR) reduces parathyroid hormone secretion and renal tubular reabso …
48 results