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.

Detalles Bibliográficos
Main Authors:	Bowl, MR, Turner, J, Nesbit, M, Harding, B, Thakker, R
Formato:	Journal article
Publicado:	2001

Títulos similares

Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
por: Shikama, N, et al.
Publicado: (2009)

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.
por: Anthony Meager, et al.
Publicado: (2006-07-01)

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
por: Elise M. N. Ferré, et al.
Publicado: (2021-11-01)

Autoimmune polyendocrinopathy and hypophysitis after Puumala hantavirus infection
por: Marlene Tarvainen, et al.
Publicado: (2016-11-01)

A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1
por: Junghwan Suh, et al.
Publicado: (2019-12-01)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
por: Qi Liu, et al.
Publicado: (2023-01-01)

A diagnostic dilemma of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome
por: Sanket A. Surushe, et al.
Publicado: (2024-05-01)

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
por: Donatella Capalbo, et al.
Publicado: (2012-01-01)

Pathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
por: Sakeen W. Kashem, et al.
Publicado: (2017-01-01)

Microangiopathic complications in type 1 diabetes mellitus: differences in severity when isolated or associated with autoimmune polyendocrinopathies
por: Patrícia Teófilo Monteagudo, et al.

Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
por: María Isabel Luis-Yanes, et al.
Publicado: (2020-11-01)

Infertility due to lack of zona pellucida caused by a compound heterozygous mutation in ZP1 gene
por: Zheng Zhang, et al.
Publicado: (2018-01-01)

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
por: Mirczuk, S, et al.
Publicado: (2010)

Reversible adrenal insufficiency and heterophile antibodies in a case of autoimmune polyendocrinopathy syndrome
por: Sandeep Kharb, et al.
Publicado: (2013-01-01)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
por: Bowl, MR, et al.
Publicado: (2001)

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.
por: Hannan, F, et al.
Publicado: (2008)

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
por: Bergithe E. Oftedal, et al.
Publicado: (2023-06-01)

A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association.
por: Nithiyananthan, R, et al.
Publicado: (2000)

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
por: Adolfredo Santana, et al.
Publicado: (2018-12-01)

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
por: Obaid Imtiyazul Haque, et al.
Publicado: (2022-12-01)

Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review
por: Mohammadreza Shafiei, et al.
Publicado: (2025-02-01)

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report
por: Margherita S. Silani, et al.
Publicado: (2024-10-01)

Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
por: Florica Sandru, et al.
Publicado: (2024-01-01)

Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia
por: Li Wu, et al.
Publicado: (2022-07-01)

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
por: Shuang Cai, et al.
Publicado: (2018-01-01)

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
por: Ziyu Ren, et al.
Publicado: (2021-08-01)

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
por: Adam G W Matthews, et al.
Publicado: (2015-01-01)

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B
por: N Letete, et al.
Publicado: (2023-12-01)

ORAL FINDINGS AND CLINICAL BEHAVIOR IN PATIENT HAVING AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)
por: Kremena Markova, et al.
Publicado: (2024-10-01)

Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED) patient: major effect on treatment and prognosis
por: Taieb Ach, et al.
Publicado: (2023-04-01)

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome: a paradigm of immunodeficiency with autoimmunity
por: Federica eBarzaghi, et al.
Publicado: (2012-07-01)

Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
por: Giardino, G, et al.
Publicado: (2021)

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
por: Mehta, P, et al.
Publicado: (2012)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
por: Yuqi Shao, et al.
Publicado: (2024-04-01)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
por: Yuqing Xu, et al.
Publicado: (2023-06-01)

Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2
por: Karthikeyan Kadirvel, et al.
Publicado: (2021-01-01)

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

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
por: Bowl, MR, et al.
Publicado: (2005)

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
por: Ellard, S, et al.
Publicado: (2007)

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
por: Zeng J, et al.
Publicado: (2022-06-01)