Results 51 to 60 of about 212 (100)

Additional file 1 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

, 2021
Additional file 1: Supplemental Figure 1. High confidence somatic mutations and INDELS is depicted for each sample.
Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad   +13 more
openaire   +1 more source

Hiperfosfatazya mental retardasyon sendromu düşünülen olgularda tüm ekzom sekanslama ile moleküler etiyolojinin belirlenmesi [PDF]

, 2022
Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları A.B.D. Araştırma ProjesiAraştırma Projesi elektronik ortamda bulunmaktadır.AMAÇ: Bu çalışmanın amacı, global gelişim geriliği ve serum alkalen fosfataz (ALP) düzeyi yaşa göre normal aralığın üzerinde olan ...
Özkınay, Feriştah Ferda
core   +1 more source

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...
Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium   +10 more
wiley   +1 more source

Additional file 2 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

, 2021
Additional file 2: Supplemental Figure 2. Predicted protein structure of PGAP3-SRPK1 fusion gene including predicted active site.
Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad   +13 more
openaire   +1 more source

Non‐HLA Risk Loci ERBB3/IKZF4 and ERBB2/IKZF3/GSDMB/ORMDL3 Interact to Influence Progression of Autoimmunity in Relatives of T1D Patients

Diabetes/Metabolism Research and Reviews, Volume 42, Issue 3, March 2026.
ABSTRACT Aim The genetic loci, ERBB2/IKZF3/GSDMB/ORMDL3 on chromosome 17q, and ERBB3/IKZF4 on chromosome 12q represent confirmed non‐HLA risk factors for the development of autoimmunity and progression to type 1 diabetes (T1D). It is unknown whether both regions can interact to influence the progression of T1D.
Ina M. Mertens, Bart Keymeulen, Frans K. Gorus, Mark Van De Casteele, the Belgian Diabetes Registry   +4 more
wiley   +1 more source

Additional file 6 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

, 2021
Additional file 6: Supplemental Table 3. Sanger Sequencing Primers.
Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad   +13 more
openaire   +1 more source

<p>The Novel Circular RNA Circ-PGAP3 Promotes the Proliferation and Invasion of Triple Negative Breast Cancer by Regulating the miR-330-3p/Myc Axis</p>

OncoTargets and Therapy, 2020
Triple negative breast cancer (TNBC), a special subtype of breast cancer, is characterized by high recurrence, mortality and few treatments. To date, the key factors contributing to TNBC progression have not been fully identified. In the current study, we found a TNBC-related circular RNA (circRNA), circ-PGAP3, and explored its biological function ...
He,Dabao, Yang,Xiaoling, Kuang,Wenbin, Huang,Guoqing, Liu,Xiaohong, Zhang,Yonggang   +5 more
openaire   +4 more sources

Hyperphosphatasia With Intellectual Disability (Mabry Syndrome) due to Compound Heterozygous PIGO Variants: First Molecularly Characterized Case in French Guiana: A Case Report and Review of the Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Introduction Hyperphosphatasia with intellectual disability syndrome (HPMRS), also known as Mabry syndrome, is a rare autosomal recessive disorder of glycosylphosphatidylinositol (GPI) anchor biosynthesis. Approximately 20 cases with pathogenic PIGO variants have been reported worldwide.
Mody Diop, Joddy Mafema Missindu, Narcisse Elenga, Neetu Rawal   +3 more
wiley   +1 more source

CD24 is a promising immunotherapeutic target for enhancing efficacy of third‐generation EGFR‐TKIs on EGFR‐mutated lung cancer

Cancer Communications, Volume 45, Issue 11, Page 1547-1578, November 2025.
Abstract Background Third‐generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) show initial efficacy in EGFR‐mutated lung cancer, but residual disease persists. This study aimed to investigate cluster of differentiation 24 (CD24) as a translational immunotherapeutic target for enhancing third‐generation EGFR‐TKI efficacy.
Jiaqi Liang, Guoshu Bi, Xiaolong Huang, Zhijie Xu, Yiwei Huang, Yunyi Bian, Guangyao Shan, Wei Guo, Yuanliang Yan, Qihai Sui, Xiaodong Yang, Zhencong Chen, Tao Lu, Huan Zhang, Qun Wang, Wei Jiang, Cheng Zhan   +16 more
wiley   +1 more source

Chromosomally Unstable Gastric Cancers Overexpressing Claudin-6 Disclose Cross-Talk between HNF1A and HNF4A, and Upregulated Cholesterol Metabolism

, 2022
(1) Abnormally increased expression of claudin-6 in gastric cancer is considered a prognostic marker of the chromosomal unstable molecular subtype. However, a detailed molecular profile analysis of differentially expressed genes and affected pathways ...
Rendón-Huerta, Erika Patricia, Hernández-Montes, Georgina, Sanyog Dwivedi, Erika Patricia Rendón-Huerta, Luis Felipe Montaño, Dwivedi, Sanyog, Georgina Hernández-Montes, Montaño, Luis Felipe   +7 more
core   +1 more source