Novel Mutation in T-Cell Immune Regulator 1: A Case of Adult-Onset Autosomal Recessive Osteopetrosis

Novel Mutation in T-Cell Immune Regulator 1: A Case of Adult-Onset Autosomal Recessive Osteopetrosis

Bibliographic Details
Main Authors:	Esma Gülsun Arslan Cellat, Ersin Akarsu, Zeynel Abidin Sayiner, Ayşenur Kördüğüm
Format:	Article
Language:	English
Published:	AVES 2022-12-01
Series:	Turkish Journal of Endocrinology and Metabolism
Online Access:	https://www.turkjem.org/en/novel-mutation-in-t-cell-immune-regulator-1-a-case-of-adult-onset-autosomal-recessive-osteopetrosis-131134

Similar Items

Diabetes Mellitus and Lower Urinary Tract Infection Management in a Single Tertiary Center
by: Esma Gülsün Arslan Cellat, et al.
Published: (2023-07-01)

Autosomal recessive osteopetrosis: mechanisms and treatments
by: Sara Penna, et al.
Published: (2021-05-01)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
by: Xia Wang, et al.
Published: (2023-04-01)

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis
by: Huanhuan Liang, et al.
Published: (2021-11-01)

Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis
by: Eleonora Palagano, et al.
Published: (2020-06-01)

Autosomal-dominant osteopetrosis: An incidental finding
by: Rajathi Maria, et al.
Published: (2010-01-01)

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
by: Odelia Chorin, et al.
Published: (2020-10-01)

Exploitation of circulating CD34+ cells and non-genotoxic conditioning to overcome major limitations to treatment for autosomal recessive osteopetrosis
by: Valentina Capo, et al.
Published: (2020-10-01)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
by: Piret, S, et al.
Published: (2016)

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
by: Sol Kang, et al.
Published: (2019-12-01)

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
by: Gaetana Lanzi, et al.
Published: (2020-01-01)

Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
by: Máté Horváth, et al.
Published: (2023-04-01)

Late-onset Visual Loss in Osteopetrosis
by: Abdul-Majid Wangai, et al.
Published: (2011-12-01)

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
by: Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
Published: (2020-03-01)

Development of a disease model for autosomal recessive osteopetrosis and CRISPR/Cas9-based gene therapeutic approaches in human induced pluripotent stem cells
by: Floriane Hennig, et al.
Published: (2021-04-01)

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis
by: Tashunka Taylor-Miller, et al.
Published: (2021-06-01)

A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease
by: Zeinab Jamiri, et al.
Published: (2022-05-01)

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
by: Ajmal, Muhammad, et al.
Published: (2018)

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
by: Muhammad Ajmal, et al.
Published: (2017-12-01)

Genetic Analysis of in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
by: Seon Young Kim, et al.
Published: (2018-09-01)

Characterization of autosomal recessive Parkinson disease-linked parkin mutations.
by: Ng, Xiao Hui.
Published: (2009)

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
by: Bushra Irum, et al.
Published: (2016-01-01)

Correction: Mutations in Cause Autosomal Recessive Congenital Ichthyosis in Humans.
by: Franz P. W. Radner, et al.
Published: (2013-06-01)

MUTATION IN THE CLCN7 GENE CAUSING AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE Ⅱ: A CASE REPORT AND LITERATURE REVIEW
by: LIU Xueting, WANG Shuangyi
Published: (2023-12-01)

A novel missense mutation in the <it>CLCN7</it> gene linked to benign autosomal dominant osteopetrosis: a case series
by: Rashid Ban Mousa, et al.
Published: (2013-01-01)

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1G > T mutation in SNX10 gene
by: Maojia Xu, et al.
Published: (2017-10-01)

A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene
by: Halil Onder, et al.
Published: (2023-01-01)

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
by: Nannan Qian, et al.
Published: (2022-02-01)

Pancytopenia Secondary to Adult Osteopetrosis
by: Abdullah Y. Alkhowaiter, et al.
Published: (2020-07-01)

Autosomal Recessive Stickler Syndrome
by: Thomas R. W. Nixon, et al.
Published: (2022-06-01)

Autosomal recessive cerebellar ataxias
by: Palau Francesc, et al.
Published: (2006-11-01)

Autosomal recessive cerebellar ataxia caused by mutations in the <it>PEX2 </it>gene
by: Wanders Ronald J, et al.
Published: (2011-03-01)

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
by: Franz P W Radner, et al.
Published: (2013-06-01)

Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans
by: Eran Cohen-Barak, et al.
Published: (2018-06-01)

Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene
by: Á. Martínez-Martín, et al.
Published: (2022-10-01)

Case series of autosomal recessive hereditary spastic paraplegia in adults
by: Rahul T Chakor, et al.
Published: (2021-01-01)

The <it>ADAMTS18 </it>gene is responsible for autosomal recessive early onset severe retinal dystrophy
by: Peluso Ivana, et al.
Published: (2013-01-01)

Osteopetrosis
by: Savarirayan Ravi, et al.
Published: (2009-02-01)

Osteopetrosis
by: Theresia Santi, et al.
Published: (2016-12-01)

Treatment of autosomal recessive and autosomal dominant polycystic kidney disease
by: E. F. Andreeva, et al.
Published: (2019-05-01)