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.

Opis bibliograficzny
Główni autorzy:	Bowl, MR, Turner, J, Nesbit, M, Harding, B, Thakker, R
Format:	Journal article
Wydane:	2001

Podobne zapisy

Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
od: Shikama, N, i wsp.
Wydane: (2009)

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.
od: Anthony Meager, i wsp.
Wydane: (2006-07-01)

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
od: Elise M. N. Ferré, i wsp.
Wydane: (2021-11-01)

Autoimmune polyendocrinopathy and hypophysitis after Puumala hantavirus infection
od: Marlene Tarvainen, i wsp.
Wydane: (2016-11-01)

A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1
od: Junghwan Suh, i wsp.
Wydane: (2019-12-01)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
od: Qi Liu, i wsp.
Wydane: (2023-01-01)

A diagnostic dilemma of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome
od: Sanket A. Surushe, i wsp.
Wydane: (2024-05-01)

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
od: Donatella Capalbo, i wsp.
Wydane: (2012-01-01)

Pathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
od: Sakeen W. Kashem, i wsp.
Wydane: (2017-01-01)

Microangiopathic complications in type 1 diabetes mellitus: differences in severity when isolated or associated with autoimmune polyendocrinopathies
od: Patrícia Teófilo Monteagudo, i wsp.

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
od: Mirczuk, S, i wsp.
Wydane: (2010)

Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
od: María Isabel Luis-Yanes, i wsp.
Wydane: (2020-11-01)

Infertility due to lack of zona pellucida caused by a compound heterozygous mutation in ZP1 gene
od: Zheng Zhang, i wsp.
Wydane: (2018-01-01)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
od: Bowl, MR, i wsp.
Wydane: (2001)

Reversible adrenal insufficiency and heterophile antibodies in a case of autoimmune polyendocrinopathy syndrome
od: Sandeep Kharb, i wsp.
Wydane: (2013-01-01)

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

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.
od: Hannan, F, i wsp.
Wydane: (2008)

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
od: Bergithe E. Oftedal, i wsp.
Wydane: (2023-06-01)

A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association.
od: Nithiyananthan, R, i wsp.
Wydane: (2000)

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
od: Adolfredo Santana, i wsp.
Wydane: (2018-12-01)

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
od: Obaid Imtiyazul Haque, i wsp.
Wydane: (2022-12-01)

Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review
od: Mohammadreza Shafiei, i wsp.
Wydane: (2025-02-01)

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report
od: Margherita S. Silani, i wsp.
Wydane: (2024-10-01)

Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
od: Florica Sandru, i wsp.
Wydane: (2024-01-01)

Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia
od: Li Wu, i wsp.
Wydane: (2022-07-01)

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
od: Shuang Cai, i wsp.
Wydane: (2018-01-01)

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
od: Ziyu Ren, i wsp.
Wydane: (2021-08-01)

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
od: Adam G W Matthews, i wsp.
Wydane: (2015-01-01)

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B
od: N Letete, i wsp.
Wydane: (2023-12-01)

ORAL FINDINGS AND CLINICAL BEHAVIOR IN PATIENT HAVING AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)
od: Kremena Markova, i wsp.
Wydane: (2024-10-01)

Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED) patient: major effect on treatment and prognosis
od: Taieb Ach, i wsp.
Wydane: (2023-04-01)

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome: a paradigm of immunodeficiency with autoimmunity
od: Federica eBarzaghi, i wsp.
Wydane: (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.
od: Andrew Nesbit, M, i wsp.
Wydane: (2004)

Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
od: Giardino, G, i wsp.
Wydane: (2021)

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
od: Mehta, P, i wsp.
Wydane: (2012)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
od: Yuqi Shao, i wsp.
Wydane: (2024-04-01)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
od: Yuqing Xu, i wsp.
Wydane: (2023-06-01)

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

Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2
od: Karthikeyan Kadirvel, i wsp.
Wydane: (2021-01-01)

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
od: Jinhee Lee, i wsp.
Wydane: (2022-03-01)