Cargando…

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, whi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lemos, Manuel C, Thakker, Rajesh V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2015
Materias:	Mutation Update
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309471/ https://www.ncbi.nlm.nih.gov/pubmed/25219572 http://dx.doi.org/10.1002/humu.22696

Ejemplares similares

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
por: Nakamura, Akie, et al.
Publicado: (2011)

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020)

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene
por: Lemos, Manuel C., et al.
Publicado: (2015)

CNGB1‐related rod‐cone dystrophy: A mutation review and update
por: Nassisi, Marco, et al.
Publicado: (2021)

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
por: Abdelkreem, Elsayed, et al.
Publicado: (2019)

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
por: Dhekne, Herschel S., et al.
Publicado: (2018)

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
por: Gilbert, Melissa A., et al.
Publicado: (2019)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

A mutation update for the FLNC gene in myopathies and cardiomyopathies
por: Verdonschot, Job A. J., et al.
Publicado: (2020)

Mutation update for the ACTN2 gene
por: Ranta‐aho, Johanna, et al.
Publicado: (2022)

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
por: Gardner, Emily, et al.
Publicado: (2019)

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
por: Pathak, Sagar J., et al.
Publicado: (2018)

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
por: Schepers, Dorien, et al.
Publicado: (2018)

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease
por: Peeters, Manon H. C. A, et al.
Publicado: (2021)

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
por: Morrone, Amelia, et al.
Publicado: (2014)

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
por: Tomanin, Rosella, et al.
Publicado: (2018)

GATA2 deficiency syndrome: A decade of discovery
por: Homan, Claire C., et al.
Publicado: (2021)

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
por: Zanetti, Alessandra, et al.
Publicado: (2021)

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
por: De Franco, Elisa, et al.
Publicado: (2020)

Mitochondrial tRNA mutations in Chinese children with tic disorders
por: Jiang, Peifang, et al.
Publicado: (2020)

Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
por: Perez-Nanclares, Gustavo, et al.
Publicado: (2015)

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia
por: Long, Xiao-dan, et al.
Publicado: (2018)

Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation
por: Mangu, Goutami, et al.
Publicado: (2023)

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020)

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020)

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear
por: Miao, Kaisong, et al.
Publicado: (2019)

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1
por: Itoh, Masatsune, et al.
Publicado: (2017)

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
por: Bannwarth, Sylvie, et al.
Publicado: (2013)

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2
por: Goda, Takeshi, et al.
Publicado: (2020)

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
por: Button, Emily L., et al.
Publicado: (2022)

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)

A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene
por: Thiele, Susanne, et al.
Publicado: (2015)

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population
por: Li, Jin, et al.
Publicado: (2020)

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype
por: Gorbacheva, Anna, et al.
Publicado: (2023)

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1
por: Nishizaki, Yoshimi, et al.
Publicado: (2016)

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1
por: Tsunogai, Toshiki, et al.
Publicado: (2016)

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
por: Kapuganti, Ramani Shyam, et al.
Publicado: (2023)

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)
por: Jo, Wakako, et al.
Publicado: (2012)

Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
por: Hasegawa, Kosei, et al.
Publicado: (2015)

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
por: Itoh, Masatsune, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_sf7krpds2f0f1b4k1a2miuubso