Associated Papers
Integrated genomic analysis of EDNRB common and rare variants in Hirschsprung disease.
Zuo X et al.
Genes & Diseases, 2026
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín M et al.
American Journal of Medical Genetics. Part A, 2008
Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
Lin YC et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
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