Cargando…

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

BACKGROUND: Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or compound heterozygosity with a pathogenic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Islam, Sumaya, Tekman, Mehmet, Flanagan, Sarah E., Guay‐Woodford, Lisa, Hussain, Khalid, Ellard, Sian, Kleta, Robert, Bockenhauer, Detlef, Stanescu, Horia, Iancu, Daniela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683636/ https://www.ncbi.nlm.nih.gov/pubmed/33811480 http://dx.doi.org/10.1002/mgg3.1674

Ejemplares similares

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
por: Abdelhadi, Ola, et al.
Publicado: (2016)

OVAS: an open-source variant analysis suite with inheritance modelling
por: Mozere, Monika, et al.
Publicado: (2018)

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
por: Abdelhadi, Ola, et al.
Publicado: (2016)

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report
por: Abraham, Mary, et al.
Publicado: (2015)

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
por: Cappella, Michela, et al.
Publicado: (2015)

A Combination of Nifedipine and OctreotideTreatment in an HyperinsulinemicHypoglycemic Infant
por: Durmaz, Erdem, et al.
Publicado: (2014)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
por: Moravej, Hossein, et al.
Publicado: (2019)

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia
por: Haliloğlu, Belma, et al.
Publicado: (2018)

Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings
por: Zdebik, Anselm A., et al.
Publicado: (2013)

Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease
por: Acharya, Ratna, et al.
Publicado: (2022)

Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia
por: Flanagan, S. E., et al.
Publicado: (2011)

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
por: Sethi, Aashish, et al.
Publicado: (2020)

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia
por: Kiparissi, Fevronia, et al.
Publicado: (2023)

Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study
por: Maria, Güemes, et al.
Publicado: (2019)

Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling
por: Bockenhauer, Detlef, et al.
Publicado: (2021)

Fainting Fanconi syndrome clarified by proxy: a case report
por: Walsh, Stephen Benedict, et al.
Publicado: (2017)

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
por: Senniappan, Senthil, et al.
Publicado: (2015)

Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy
por: Downie, Mallory L., et al.
Publicado: (2021)

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
por: Mahmood, Fahad, et al.
Publicado: (2013)

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age
por: Arya, Ved Bhushan, et al.
Publicado: (2013)

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
por: Çamtosun, Emine, et al.
Publicado: (2015)

Bartter and Gitelman syndromes: Questions of class
por: Besouw, Martine T. P., et al.
Publicado: (2019)

A case of severe neonatal transient hyperinsulinemic hypoglycaemia without identifiable risk factors: a case report
por: Osada, Asami, et al.
Publicado: (2022)

Zebrafish as a model for kidney function and disease
por: Outtandy, Priya, et al.
Publicado: (2018)

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood
por: Adalat, Shazia, et al.
Publicado: (2019)

PMM no. 9
Publicado: (1980)

PMM no. 20
Publicado: (1980)

PMM no. 22
Publicado: (1981)

PMM no. 21
Publicado: (1981)

PMM no. 19
Publicado: (1980)

PMM no. 12
Publicado: (1980)

PMM no. 13
Publicado: (1980)

PMM no. 14
por: Benincasa, G P, et al.
Publicado: (1980)

PMM no. 15
Publicado: (1980)

PMM no. 16
Publicado: (1980)

PMM no. 17
Publicado: (1980)

PMM no. 10
Publicado: (1980)

PMM no. 11
Publicado: (1980)

A novel technique of Roux-en-Y gastric bypass reversal for postprandial hyperinsulinemic hypoglycaemia: A case report
por: Qvigstad, E., et al.
Publicado: (2016)

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
por: Laver, Thomas W., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_k8scv2mggldiogpcte609qcs3u