Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism

Authors: Albader, Najla, Zou, Minjing, BinEssa, Huda A, Abdi, Saba, Al-Enezi, Anwar F, Meyer, Brian F, Alzahrani, Ali S, Shi, Yufei

Source: Journal of clinical endocrinology & metabolism. 107(3):e1263-e1276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100148307091.0x000001&indx=1&recIds=ETOCvdc_100148307091.0x000001

Novel VDR Mutations in Patients with Vitamin D–Dependent Rickets Type 2a: A Mild Disease Phenotype Caused by A Novel Canonical Splice-Site Mutation

Authors: Demir, Korcan ^*, Zou, Minjing ^*, Al-Rijjal, Roua A., BinEssa, Huda, Acar, Sezer, Durmaz, Erdem, Çatlı, Gönül, Al-Enezi, Anwar F., Alzahrani, Ali S., Meyer, Brian F., Shi, Yufei ^*

Source: In Endocrine Practice January 2020 26(1):72-81

Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets

Authors: BinEssa, Huda A., Zou, Minjing, Al-Enezi, Anwar F., Alomrani, Basma, Al-Faham, Manar S.A., Al-Rijjal, Roua A., Meyer, Brian F., Shi, Yufei

Source: In Bone August 2019 125:186-193

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets

Authors: Cebeci, Ayşe Nurcan, Zou, Minjing, BinEssa, Huda A, Alzahrani, Ali S, Al-Rijjal, Roua A, Al-Enezi, Anwar F, Al-Mohanna, Futwan A, Cavalier, Etienne, Meyer, Brian F, Shi, Yufei

Source: Journal of clinical endocrinology & metabolism. 105(6):1840-1850

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117991279.0x000001&indx=1&recIds=ETOCvdc_100117991279.0x000001

KRASG12D-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1

Authors: Zou, Minjing, Baitei, Essa Y, Al-Rijjal, Roua A, Parhar, Ranjit S, Al-Mohanna, Futwan A, Kimura, Shioko, Pritchard, Catrin, BinEssa, Huda, Alanazi, Azizah A, Alzahrani, Ali S, Akhtar, Mohammed, Assiri, Abdullah M, Meyer, Brian F, Shi, Yufei

Source: In Laboratory Investigation November 2015 95(11):1269-1277

β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in Braf^V600E-driven thyroid cancer cells.

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

Source: Frontiers in Immunology; 2023, p1-10, 10p

Subject Terms: CANCER cells, LIGANDS (Biochemistry), CELL-mediated cytotoxicity, THYROID cancer, WNT signal transduction, TUMOR growth

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.

Authors: Acar, Sezer¹, BinEssa, Huda A.², Demir, Korcan¹, Al-Rijjal, Roua A.², Zou, Minjing², Çatli, Gönül³, Anık, Ahmet⁴, Al-Enezi, Anwar F.², Özışık, Seçil⁵, Al-Faham, Manar S. A.², Abacı, Ayhan¹, Dündar, Bumin³, Kattan, Walaa E.², Alsagob, Maysoon², Kavukçu, Salih⁶, Tamimi, Hamdi E.², Meyer, Brian F.², Böber, Ece¹, Shi, Yufei² yufei@kfshrc.edu.sa

Source: PLoS ONE. 3/5/2018, Vol. 13 Issue 3, p1-17. 17p.

Subject Terms: *HYPOPHOSPHATEMIA, *WATER-electrolyte imbalances, *HYPERKALEMIA, *MEDICAL screening, *GENETIC disorder diagnosis

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Authors: Albader, Najla, Minjing Zou, BinEssa, Huda A., Abdi, Saba, Al-Enezi, Anwar F., Meyer, Brian F., Alzahrani, Ali S., Shi, Yufei

Source: Journal of Clinical Endocrinology & Metabolism; Mar2022, Vol. 107 Issue 3, pe12263-e1276, 14p

Subject Terms: CONGENITAL hypothyroidism, RNA regulation

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

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

Source: Orphanet Journal of Rare Diseases; 2/25/2021, Vol. 16 Issue 1, p1-11, 11p

Subject Terms: EXOSTOSIS, SAUDI Arabians, GENES, GENETIC disorders, LEUKOCYTES, GENETIC mutation, RESEARCH, SEQUENCE analysis, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, TRANSFERASES

Geographic Terms: SAUDI Arabia

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

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

Source: Frontiers in Genetics; 11/27/2020, Vol. 11, pN.PAG-N.PAG, 7p

Subject Terms: RNA splicing, MISSENSE mutation, RICKETS, INTRONS, GENETIC mutation, PATIENTS' families

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Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets

Authors: Cebeci, Ayşe Nurcan, Zou, Minjing, BinEssa, Huda A, Alzahrani, Ali S, Al-Rijjal, Roua A, Al-Enezi, Anwar F, Al-Mohanna, Futwan A, Cavalier, Etienne, Meyer, Brian F, Shi, Yufei

Source: The Journal of Clinical Endocrinology & Metabolism; June 2020, Vol. 105 Issue: 6 p1840-1850, 11p

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KRAS^G12D-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1.

Authors: Zou, Minjing, Baitei, Essa Y, Al-Rijjal, Roua A, Parhar, Ranjit S, Al-Mohanna, Futwan A, Kimura, Shioko, Pritchard, Catrin, BinEssa, Huda, Alanazi, Azizah A, Alzahrani, Ali S, Akhtar, Mohammed, Assiri, Abdullah M, Meyer, Brian F, Shi, Yufei

Source: Laboratory Investigation (00236837); Nov2015, Vol. 95 Issue 11, p1269-1277, 9p

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