Johanson-Blizzard Syndrome Latest Advances

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Journal: Journal of biosciences

Published: February 06, 2025

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia

Published: December 09, 2024

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Journal: Pediatric radiology

Published: July 25, 2024

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Journal: Stem cell research

Published: May 28, 2024

UBR-1 ubiquitin ligase regulates the balance between GABAergic and glutamatergic signaling.

Journal: EMBO reports

Published: February 16, 2023

Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 01, 2022

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Journal: Journal of healthcare engineering

Published: December 02, 2021

50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.

Journal: The Journal of pediatrics

Published: November 19, 2021

Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

Journal: Journal of audiology & otology

Published: July 26, 2021

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Journal: Clinical genetics

Published: November 02, 2020

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Journal: American journal of human genetics

Published: July 05, 2020

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]

Published: September 26, 2019

Filters

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

UBR-1 ubiquitin ligase regulates the balance between GABAergic and glutamatergic signaling.

UBR-1 ubiquitin ligase regulates the balance between GABAergic and glutamatergic signaling.

Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene

Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.

50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.

Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.