Cargando…

A pediatric case of productive cough caused by novel variants in DNAH9

We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect....

Descripción completa

Detalles Bibliográficos
Autores principales:	Takeuchi, Kazuhiko, Xu, Yifei, Ogawa, Satoru, Ikejiri, Makoto, Nakatani, Kaname, Gotoh, Shimpei, Usui, Satoko, Masuda, Sawako, Nagao, Mizuho, Fujisawa, Takao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810879/ https://www.ncbi.nlm.nih.gov/pubmed/33452233 http://dx.doi.org/10.1038/s41439-020-00134-6

Ejemplares similares

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia
por: Kano, Gen, et al.
Publicado: (2016)

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
por: Takeuchi, Kazuhiko, et al.
Publicado: (2020)

A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
por: Feng, Guofei, et al.
Publicado: (2022)

A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations
por: Orimo, Mami, et al.
Publicado: (2019)

Sensitization to secretoglobin and lipocalins in a group of young children with risk of developing respiratory allergy
por: Nagao, Mizuho, et al.
Publicado: (2017)

Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia
por: Tang, Dongdong, et al.
Publicado: (2021)

Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report
por: Zhang, Lili, et al.
Publicado: (2020)

Food allergy and anaphylaxis – 2045. Highly elevated IgE antibodies to vaccine components in influenza vaccine-associated anaphylaxis in Japan
por: Nagao, Mizuho, et al.
Publicado: (2013)

Primary cytomegalovirus infection during pregnancy and congenital infection: a population-based, mother–child, prospective cohort study
por: Shimada, Kyoko, et al.
Publicado: (2021)

Novel homozygous mutations of DNAH5 in Kartagener syndrome
por: Cheng, Xian-Dong, et al.
Publicado: (2021)

Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis
por: Makoto, Ikejiri, et al.
Publicado: (2018)

Generation of a Triple-Transgenic Zebrafish Line for Assessment of Developmental Neurotoxicity during Neuronal Differentiation
por: Koiwa, Junko, et al.
Publicado: (2019)

Asthma diagnosis and treatment – 1007. Clinical application of forced oscillation technique for children with asthma
por: Kainuma, Keigo, et al.
Publicado: (2013)

A Murine Model of Food Allergy by Epicutaneous Adjuvant-Free Allergen Sensitization Followed by Oral Allergen Challenge Combined with Aspirin for Enhanced Detection of Hypersensitivity Manifestations and Immunotherapy Monitoring
por: Kameda, Keiko, et al.
Publicado: (2023)

Variation in DNAH1 may contribute to primary ciliary dyskinesia
por: Imtiaz, Faiqa, et al.
Publicado: (2015)

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients
por: Zhu, Dongliang, et al.
Publicado: (2019)

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
por: Zhang, Beibei, et al.
Publicado: (2019)

Food allergy and anaphylaxis - 2041. Rush oral immunotherapy for severe food allergy: one year follow up
por: Sugimoto, Mayumi, et al.
Publicado: (2013)

Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report
por: Higashi, Shinichiro, et al.
Publicado: (2022)

DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease
por: Lee, Jin Hwa, et al.
Publicado: (2014)

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
por: Li, You, et al.
Publicado: (2016)

The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma
por: Fan, Xiaoxiao, et al.
Publicado: (2018)

DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome
por: Liu, Sida, et al.
Publicado: (2019)

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease
por: Xia, Hong, et al.
Publicado: (2021)

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia
por: Huang, Fei, et al.
Publicado: (2023)

Development of an automated ImmunoCAP research assay for eosinophil derived neurotoxin and its use in asthma diagnosis in children
por: Rydell, Niclas, et al.
Publicado: (2019)

Season of birth is associated with increased risk of atopic dermatitis in Japanese infants: a retrospective cohort study
por: Kuwabara, Yu, et al.
Publicado: (2020)

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
por: Loges, Niki T., et al.
Publicado: (2018)

Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report
por: Zhang, Tao, et al.
Publicado: (2022)

Multiomics Analysis of a DNAH5-Mutated PCD Organoid Model Revealed the Key Role of the TGF-β/BMP and Notch Pathways in Epithelial Differentiation and the Immune Response in DNAH5-Mutated Patients
por: Yang, Wenhao, et al.
Publicado: (2022)

Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study
por: Yang, Xiao, et al.
Publicado: (2018)

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella
por: Tu, Chaofeng, et al.
Publicado: (2019)

Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size
por: Wang, Zhen, et al.
Publicado: (2022)

Identification of DNAH17 Variants in Han-Chinese Patients With Left–Right Asymmetry Disorders
por: Yu, Xuehui, et al.
Publicado: (2022)

DNAH7 mutations benefit colorectal cancer patients receiving immune checkpoint inhibitors
por: Yang, Wenjuan, et al.
Publicado: (2022)

Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma
por: Song, Zebing, et al.
Publicado: (2023)

Basophil Activation Test Based on CD203c Expression in the Diagnosis of Fish Allergy
por: Imakiire, Ryo, et al.
Publicado: (2020)

The COUGHVID crowdsourcing dataset, a corpus for the study of large-scale cough analysis algorithms
por: Orlandic, Lara, et al.
Publicado: (2021)

Somatic mutation of DNAH genes implicated higher chemotherapy response rate in gastric adenocarcinoma patients
por: Zhu, Chunchao, et al.
Publicado: (2019)

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling
por: Namavarian, Amirpouyan, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_kli1q3d72me6fdldvjvnan45lo