Last Posted: Jun 07, 2023
- Association analysis and functional follow-up identified common variants of JAG1 accounting for risk to biliary atresia.
Mei-Rong Bai, et al. Frontiers in genetics 2023 0 1186882
- The Impact of Thrombophilic Factors on Disease Progression in Children with Biliary Atresia-A Single-Centre Cohort Study.
Ohlendorf Johanna, et al. Journal of clinical medicine 2023 0 (6)
- Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok Pagna, et al. American journal of medical genetics. Part A 2023 0
- MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children.
Chang Jiaming, et al. BioMed research international 2023 0 4835839
- Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms and biliary atresia susceptibility in Chinese children.
Liu Jia, et al. International journal of clinical and experimental pathology 2020 0 (5) 2846-2851
- Correlation between hepatic oxidative damage and clinical severity and mitochondrial gene sequencing results in biliary atresia.
Wang Junfeng, et al. Hepatology research : the official journal of the Japan Society of Hepatology 2019 0 (6) 695-704
- MicroRNA-499 rs3746444 polymorphism in Egyptian children with biliary atresia.
Gawish Eman, et al. Clinical and experimental hepatology 2020 0 (3) 263-269
- Association of common variation in ADD3 and GPC1 with biliary atresia susceptibility.
Bai Mei-Rong, et al. Aging 2020 0 (8) 7163-7182
- Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
Lam Wai-Yee, et al. EBioMedicine 2021 0 103530
- Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients.
Gürünlüo?lu Kubilay, et al. Clinical and experimental hepatology 2021 0 (4) 347-353
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 09, 2023
- Content source: