Cargando…

Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome

Early-onset diabetes, liver dysfunction, growth retardation, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (WRS). Eukaryotic translation initiation factor 2α kinase (EIF2AK3) is the only known gene, which is respon...

Descripción completa

Detalles Bibliográficos
Autores principales:	Behnam, Babak, Shakiba, Marjan, Ahani, Ali, Razzaghy Azar, Maryam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Kowsar 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759778/ https://www.ncbi.nlm.nih.gov/pubmed/24032041 http://dx.doi.org/10.5812/hepatmon.10124

Ejemplares similares

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
por: Gürbüz, Fatih, et al.
Publicado: (2016)

Re: EIF2AK3 Mutations in Patients with Wolcott-Rallison Syndrome
por: Taha, Doris
Publicado: (2005)

Wolcott-Rallison syndrome
por: Julier, Cécile, et al.
Publicado: (2010)

Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
por: Mıhçı, Ercan, et al.
Publicado: (2012)

Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family
por: Zhao, Na, et al.
Publicado: (2021)

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary
por: Sümegi, Andrea, et al.
Publicado: (2020)

Wolcott-Rallison syndrome in a Bedouin boy
por: Marafie, Makia J., et al.
Publicado: (2004)

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene
por: Gupta, Atul, et al.
Publicado: (2021)

Neonatal diabetes in Wolcott–Rallison syndrome: a case report
por: Ngoc, Can Thi Bich, et al.
Publicado: (2013)

Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome
por: Sreeramaneni, Poorna Gopal Azad, et al.
Publicado: (2017)

Wolcott-Rallison syndrome: a case series of three patients
por: Memon, Fozia, et al.
Publicado: (2022)

Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
por: Deeb, Asma, et al.
Publicado: (2017)

Frequency and spectrum of Wolcott–Rallison syndrome in Saudi Arabia: a systematic review
por: Habeb, Abdelhadi M.
Publicado: (2013)

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
por: Dias, R. P., et al.
Publicado: (2016)

An Infant With Neonatal Diabetes and Double Outlet Right Ventricle – Wolcott- Rallison syndrome
por: Bejiqi, Ramush, et al.
Publicado: (2018)

Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database
por: Welters, Alena, et al.
Publicado: (2020)

Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
por: Niculae, Alexandru-Ștefan, et al.
Publicado: (2023)

Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
por: Lundgren, Markus, et al.
Publicado: (2019)

Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort
por: Habeb, Abdelhadi M., et al.
Publicado: (2015)

The first presentation of Wolcott‐Rallison syndrome in a four‐month‐old infant with diabetic ketoacidosis (DKA) precipitating by COVID‐19: A case report
por: Maleki, Elham, et al.
Publicado: (2021)

Case of Dr. John Stoughton Wolcott, of Litchfield, Conn., Son of the Late Oliver Wolcott, for Many Years Governor of That State, and Grandson of Oliver Wolcott, One of the Signers of the Declaration of Independence
por: Brown, Solyman
Publicado: (1844)

E. B. Wolcott, M. D.
Publicado: (1880)

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
por: Macintosh, Julia, et al.
Publicado: (2023)

Reciprocal regulation between GCN2 (eIF2AK4) and PERK (eIF2AK3) through the JNK-FOXO3 axis to modulate cancer drug resistance and clonal survival
por: Alasiri, Glowi, et al.
Publicado: (2020)

EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension
por: Eichstaedt, Christina A., et al.
Publicado: (2016)

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
por: Kuipers, Demy J. S., et al.
Publicado: (2020)

Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report
por: Shakiba, Marjan, et al.
Publicado: (2016)

Comparative analysis of vertebrate EIF2AK2 (PKR) genes and assignment of the equine gene to ECA15q24–q25 and the bovine gene to BTA11q12–q15
por: Perelygin, Andrey A, et al.
Publicado: (2006)

PERK (EIF2AK3) Regulates Proinsulin Trafficking and Quality Control in the Secretory Pathway
por: Gupta, Sounak, et al.
Publicado: (2010)

Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis
por: Ma, Lijiang, et al.
Publicado: (2015)

Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation
por: Park, Goonho, et al.
Publicado: (2022)

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree
por: Mehrpour, Masoud, et al.
Publicado: (2016)

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease
por: Zhang, Chun, et al.
Publicado: (2022)

EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature
por: Liang, Li, et al.
Publicado: (2016)

A Novel SNP in EIF2AK4 Gene Is Associated with Thermal Tolerance Traits in Chinese Cattle
por: Wang, Kaiyue, et al.
Publicado: (2019)

Discovery and identification of EIF2AK2 as a direct key target of berberine for anti-inflammatory effects
por: Wei, Wei, et al.
Publicado: (2023)

Activation of the EIF2AK4-EIF2A/eIF2α-ATF4 pathway triggers autophagy response to Crohn disease-associated adherent-invasive Escherichia coli infection
por: Bretin, Alexis, et al.
Publicado: (2016)

ak 47 /
por: Aguilar Martínez, Luis
Publicado: (2017)

EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report
por: Fatani, Tarah H.
Publicado: (2019)

Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation
por: Liang, Li, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_8ivgmobqqaar46arcl45v1mla3