Cargando…

Extended clinical features associated with novel Glis3 mutation: a case report

BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Alghamdi, K. A., Alsaedi, A. B., Aljasser, A., Altawil, A., Kamal, Naglaa M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335837/ https://www.ncbi.nlm.nih.gov/pubmed/28253873 http://dx.doi.org/10.1186/s12902-017-0160-z

Ejemplares similares

Expanding the Clinical Spectrum Associated With GLIS3 Mutations
por: Dimitri, P., et al.
Publicado: (2015)

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins
por: London, Shira, et al.
Publicado: (2021)

Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report
por: Alsaedi, Abdulaziz, et al.
Publicado: (2022)

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation
por: Sarıkaya, Emre, et al.
Publicado: (2023)

Role of GLIS3 in thyroid development and in the regulation of gene expression in thyroid specific Glis3KO mice
por: Kang, Hong Soon, et al.
Publicado: (2023)

A novel variant in GLIS3 is associated with osteoarthritis
por: Casalone, Elisabetta, et al.
Publicado: (2018)

Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1)
por: Beak, Ju Youn, et al.
Publicado: (2008)

A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report
por: Altawil, Ashwaq Shukri, et al.
Publicado: (2016)

Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes
por: Bakar, Ayman A., et al.
Publicado: (2017)

Monitoring Campaign over an Edible Dormouse Population (Glis glis; Rodentia: Gliridae) in Sicily: First Report of Mesocestodiasis
por: Schirò, Giorgia, et al.
Publicado: (2021)

Telomeres are elongated in older individuals in a hibernating rodent, the edible dormouse (Glis glis)
por: Hoelzl, Franz, et al.
Publicado: (2016)

Fatty Acid Composition of M. Biceps Femoris of Edible Dormouse (Glis glis L.)
por: Pađen, Lana, et al.
Publicado: (2022)

Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene
por: Kamal, Naglaa M., et al.
Publicado: (2018)

Telomere dynamics in free-living edible dormice (Glis glis): the impact of hibernation and food supply
por: Hoelzl, Franz, et al.
Publicado: (2016)

Two novel Bartonella (sub)species isolated from edible dormice (Glis glis): hints of cultivation stress-induced genomic changes
por: Bartoš, Oldřich, et al.
Publicado: (2023)

Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation
por: Abidi, Kamel T., et al.
Publicado: (2020)

Edible dormice (Glis glis) avoid areas with a high density of their preferred food plant - the European beech
por: Cornils, Jessica S., et al.
Publicado: (2017)

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
por: Al Alawi, Intisar, et al.
Publicado: (2021)

Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation
por: Abukhatwah, Mohamed W., et al.
Publicado: (2020)

Discovery of a drug candidate for GLIS3-associated diabetes
por: Amin, Sadaf, et al.
Publicado: (2018)

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
por: Gillam, Joseph, et al.
Publicado: (2022)

How to spend the summer? Free-living dormice (Glis glis) can hibernate for 11 months in non-reproductive years
por: Hoelzl, Franz, et al.
Publicado: (2015)

Transcriptional regulation of Glis2 in hepatic fibrosis
por: Gong, Huan-Yu, et al.
Publicado: (2023)

Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
por: Kamal, Naglaa M., et al.
Publicado: (2022)

Alteration of GLIS3 gene expression pattern in patients with breast cancer
por: Rami, Farzaneh, et al.
Publicado: (2016)

GLIS3 and Thyroid: A Pleiotropic Candidate Gene for Congenital Hypothyroidism
por: Rurale, Giuditta, et al.
Publicado: (2018)

Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy
por: Smith, Stephen M., et al.
Publicado: (2022)

Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report
por: Alsaedi, Abdulaziz A., et al.
Publicado: (2017)

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report
por: Kamal, Naglaa M., et al.
Publicado: (2022)

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
por: Bakkar, Ayman A, et al.
Publicado: (2023)

STRUCTURAL ORGANIZATION OF THE RETINA IN THE TREE SHREW (TUPAIA GLIS)
por: Samorajski, T., et al.
Publicado: (1966)

Communities of Uropodina (Acari: Mesostigmata) in Nest Boxes Inhabited by Dormice (Glis glis and Muscardinus avellanarius) and Differences in Percentages of Nidicoles in Nests of Various Hosts
por: Błoszyk, Jerzy, et al.
Publicado: (2023)

GLIS3: A Critical Transcription Factor in Islet β-Cell Generation
por: Scoville, David W., et al.
Publicado: (2021)

A circular RNA derived from GLIS3 accelerates the proliferation of glioblastoma cells through competitively binding with miR-449c-5p to upregulate CAPG and GLIS3
por: Zhou, Qingjiu, et al.
Publicado: (2022)

Polycystic Kidney Disease in the Medaka (Oryzias latipes) pc Mutant Caused by a Mutation in the Gli-Similar3 (glis3) Gene
por: Hashimoto, Hisashi, et al.
Publicado: (2009)

GLIS3 regulates transcription of thyroid hormone biosynthetic genes in coordination with other thyroid transcription factors
por: Kang, Hong Soon, et al.
Publicado: (2023)

Author Correction: Transcriptional regulation of Glis2 in hepatic fibrosis
por: Gong, Huan-Yu, et al.
Publicado: (2023)

Let me know your name: a study of chigger mites (Acariformes: Trombiculidae) associated with the edible dormouse (Glis glis) in the Carpathian–Balkan distribution gradient
por: Zajkowska, Paula, et al.
Publicado: (2023)

Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants
por: Sun, Jihua, et al.
Publicado: (2019)

GLIS1-3: Links to Primary Cilium, Reprogramming, Stem Cell Renewal, and Disease
por: Jetten, Anton M., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_9ggh2q3f3a0erl1iq0ma4bbeu2