Výsledky vyhledávání - "Minjing, Zou"

Akademický článek

β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in BrafV600E-driven thyroid cancer cells

Autor: Minjing Zou, Suhad Al-Yahya, Monther Al-Alwan, Huda A. BinEssa, Khalid S. A. Khabar, Falah Almohanna, Abdullah M. Assiri, Abdulmohsen Altaweel, Amal Qattan, Brian F. Meyer, Ali S. Alzahrani, Yufei Shi

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

IntroductionBRAFV600E mutations frequently occur in papillary thyroid cancer (PTC). β-catenin, encoded by CTNNB1, is a key downstream component of the canonical Wnt signaling pathway and is often overexpressed in PTC. BRAFV600E-driven PTC tumors rel

Externí odkaz: https://doaj.org/article/04631e41d80f49b3a9a9b059ef74c4bf

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Akademický článek

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Autor: Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

Abstract Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glyco

Externí odkaz: https://doaj.org/article/e244caec184d480a9e099b3967d703d4

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Akademický článek

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

Autor: Minjing Zou, Ayla Guven, Huda A. BinEssa, Roua A. Al-Rijjal, Brian F. Meyer, Ali S. Alzahrani, Yufei Shi

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

ContextVitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessively inherited disorder due to loss-of-function mutations in the CYP27B1 gene. CYP27B1 encodes an enzyme of 25-hydroxyvitamin D-1α-hydroxylase for converting inactive 25-

Externí odkaz: https://doaj.org/article/b792308a71e44599aebd3189940ee874

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Akademický článek

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

Autor: Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

Abstract Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive or a

Externí odkaz: https://doaj.org/article/8c28bf12c73a48cd959251e1829c267f

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