Cargando…

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita

CONTEXT: DAX1 (NR0B1) mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals typically present with early-onset adrenal insufficiency and develop HH during puberty. Rare cases can present with late-onset adre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Suthiworachai, Chanisara, Tammachote, Rachaneekorn, Srichomthong, Chalurmpon, Ittiwut, Rungnapa, Suphapeetiporn, Kanya, Sahakitrungruang, Taninee, Shotelersuk, Vorasuk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2018
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316980/ https://www.ncbi.nlm.nih.gov/pubmed/30620004 http://dx.doi.org/10.1210/js.2018-00270

Ejemplares similares

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
por: Isaranuwatchai, Suramath, et al.
Publicado: (2023)

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2017)

A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
por: Porntaveetus, Thantrira, et al.
Publicado: (2015)

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
por: Sangsin, Apiruk, et al.
Publicado: (2016)

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
por: Prommajan, Korrakot, et al.
Publicado: (2011)

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2014)

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
por: Kuptanon, Chulaluck, et al.
Publicado: (2018)

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
por: Sangsin, Apiruk, et al.
Publicado: (2017)

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
por: Charnwichai, Pattaranatcha, et al.
Publicado: (2016)

TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
por: Sodsai, Pimpayao, et al.
Publicado: (2022)

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
por: Hemwong, Nalinee, et al.
Publicado: (2019)

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1
por: Liu, Siyue, et al.
Publicado: (2019)

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
por: Choi, Han Saem, et al.
Publicado: (2021)

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
por: Porntaveetus, Thantrira, et al.
Publicado: (2018)

The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis
por: Ponikwicka-Tyszko, Donata, et al.
Publicado: (2012)

Whole exome sequencing for diagnosis of hereditary thrombocytopenia
por: Mekchay, Ponthip, et al.
Publicado: (2020)

Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists
por: Phowthongkum, Prasit, et al.
Publicado: (2019)

Adrenal hypoplasia congenita in identical twins
por: Amer, Alia M. Al, et al.
Publicado: (2019)

A discordant of blood glucose analysed by Glucometer and the Central lab method in an infant with Galactosemia
por: Siripunthana, Sukumarn, et al.
Publicado: (2013)

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
por: Flint, Jennifer L., et al.
Publicado: (2013)

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases
por: Sinthuwiwat, Thivaratana, et al.
Publicado: (2022)

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant
por: Sriwattanapong, Kanokwan, et al.
Publicado: (2021)

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
por: Summa, Sarinya, et al.
Publicado: (2023)

Comment on: Adrenal hypoplasia congenita in identical twins
por: Amer, Alia M. Al, et al.
Publicado: (2020)

A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
por: Gerards, Judith, et al.
Publicado: (2017)

Clinical and molecular review of atypical congenital adrenal hyperplasia
por: Sahakitrungruang, Taninee
Publicado: (2015)

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes
por: Rojek, Aleksandra, et al.
Publicado: (2016)

Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review
por: Wang, Yuhan, et al.
Publicado: (2022)

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
por: Konjikusic, Mia J., et al.
Publicado: (2018)

Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
por: Serbis, Anastasios, et al.
Publicado: (2018)

Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells
por: Norbnop, Phatchara, et al.
Publicado: (2020)

Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report
por: Yeetong, Patra, et al.
Publicado: (2022)

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
por: Iughetti, Lorenzo, et al.
Publicado: (2019)

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
por: Tongkobpetch, Siraprapa, et al.
Publicado: (2017)

Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism
por: Loureiro, Marta, et al.
Publicado: (2015)

FRI252 Novel Mutation Presenting With Hypoaldosteronism In X-Linked Adrenal Hypoplasia Congenita
por: Ismail, Esraa, et al.
Publicado: (2023)

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
por: Zheng, Wanqi, et al.
Publicado: (2023)

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
por: Shaikh, M G, et al.
Publicado: (2008)

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia
por: Verma, Sourabh, et al.
Publicado: (2019)

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry
por: Uaariyapanichkul, Jaraspong, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_kdc1vvdb9f30d24hb6t75hvip3