Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.

Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.

Podrobná bibliografie
Hlavní autoři:	Bowl, MR, Turner, J, Nesbit, M, Harding, B, Thakker, R
Médium:	Journal article
Vydáno:	2001

Podobné jednotky

Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
Autor: Shikama, N, a další
Vydáno: (2009)

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.
Autor: Anthony Meager, a další
Vydáno: (2006-07-01)

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Autor: Elise M. N. Ferré, a další
Vydáno: (2021-11-01)

Autoimmune polyendocrinopathy and hypophysitis after Puumala hantavirus infection
Autor: Marlene Tarvainen, a další
Vydáno: (2016-11-01)

A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1
Autor: Junghwan Suh, a další
Vydáno: (2019-12-01)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
Autor: Qi Liu, a další
Vydáno: (2023-01-01)

A diagnostic dilemma of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome
Autor: Sanket A. Surushe, a další
Vydáno: (2024-05-01)

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
Autor: Donatella Capalbo, a další
Vydáno: (2012-01-01)

Pathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
Autor: Sakeen W. Kashem, a další
Vydáno: (2017-01-01)

Microangiopathic complications in type 1 diabetes mellitus: differences in severity when isolated or associated with autoimmune polyendocrinopathies
Autor: Patrícia Teófilo Monteagudo, a další

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
Autor: Mirczuk, S, a další
Vydáno: (2010)

Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
Autor: María Isabel Luis-Yanes, a další
Vydáno: (2020-11-01)

Infertility due to lack of zona pellucida caused by a compound heterozygous mutation in ZP1 gene
Autor: Zheng Zhang, a další
Vydáno: (2018-01-01)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
Autor: Bowl, MR, a další
Vydáno: (2001)

Reversible adrenal insufficiency and heterophile antibodies in a case of autoimmune polyendocrinopathy syndrome
Autor: Sandeep Kharb, a další
Vydáno: (2013-01-01)

Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
Autor: Catherine J. Culp, a další
Vydáno: (2022-03-01)

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.
Autor: Hannan, F, a další
Vydáno: (2008)

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
Autor: Bergithe E. Oftedal, a další
Vydáno: (2023-06-01)

A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association.
Autor: Nithiyananthan, R, a další
Vydáno: (2000)

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
Autor: Adolfredo Santana, a další
Vydáno: (2018-12-01)

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
Autor: Obaid Imtiyazul Haque, a další
Vydáno: (2022-12-01)

Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review
Autor: Mohammadreza Shafiei, a další
Vydáno: (2025-02-01)

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report
Autor: Margherita S. Silani, a další
Vydáno: (2024-10-01)

Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
Autor: Florica Sandru, a další
Vydáno: (2024-01-01)

Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia
Autor: Li Wu, a další
Vydáno: (2022-07-01)

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
Autor: Shuang Cai, a další
Vydáno: (2018-01-01)

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
Autor: Ziyu Ren, a další
Vydáno: (2021-08-01)

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Autor: Adam G W Matthews, a další
Vydáno: (2015-01-01)

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B
Autor: N Letete, a další
Vydáno: (2023-12-01)

ORAL FINDINGS AND CLINICAL BEHAVIOR IN PATIENT HAVING AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)
Autor: Kremena Markova, a další
Vydáno: (2024-10-01)

Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED) patient: major effect on treatment and prognosis
Autor: Taieb Ach, a další
Vydáno: (2023-04-01)

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome: a paradigm of immunodeficiency with autoimmunity
Autor: Federica eBarzaghi, a další
Vydáno: (2012-07-01)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
Autor: Andrew Nesbit, M, a další
Vydáno: (2004)

Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
Autor: Giardino, G, a další
Vydáno: (2021)

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Autor: Mehta, P, a další
Vydáno: (2012)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
Autor: Yuqi Shao, a další
Vydáno: (2024-04-01)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
Autor: Yuqing Xu, a další
Vydáno: (2023-06-01)

Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Autor: Stephanie A. Kubala, a další
Vydáno: (2021-01-01)

Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2
Autor: Karthikeyan Kadirvel, a další
Vydáno: (2021-01-01)

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
Autor: Jinhee Lee, a další
Vydáno: (2022-03-01)