Results 211 to 220 of about 6,021,091 (244)

Evidence That the Protein Phosphatase Activity of PTEN Contributes to Embryonic Development and Tumor Suppression

Cancer Science, EarlyView.
Mice expressing only mutant PTEN Y138L, a protein which shows normal suppression of cellular AKT yet lacks protein phosphatase activity, die in utero, and heterozygous mice display a range of tumors. This indicates both the lipid and protein phosphatase activities of PTEN work together for normal tumor suppression and embryonic development.
Priyanka Tibarewal, Laura Spinelli, Nisha Kriplani, Helen Wise, Nadege Poncet, Giulia Marzano, Karen E. Anderson, Katarzyna M. Grzes, Zofia Varyova, Mahreen Adil, C. Peter Downes, Phillip T. Hawkins, Len R. Stephens, Kate G. Storey, Doreen A. Cantrell, Bart Vanhaesebroeck, Nicholas R. Leslie   +16 more
wiley   +1 more source

Gene reactivation upon erosion of X chromosome inactivation in female hiPSCs is predictable yet variable and persists through differentiation. [PDF]

Stem Cell Reports
Raposo AC, Caldas P, Jeremias J, Arez M, Cazaux Mateus F, Barbosa P, Sousa-Luís R, Água F, Oxley D, Mupo A, Eckersley-Maslin M, Casanova M, Grosso AR, da Rocha ST.   +13 more
europepmc   +1 more source

Genetic Engineering of Tumor‐Infiltrating Lymphocytes (TIL) via a T‐Editor Platform to Enhance Anti‐Tumor Activity

Cancer Science, EarlyView.
A rapid and efficient CRISPR‐mediated gene editing platform for TIL engineering identified FAM84B as a novel potential target to enhance antitumor activity and pioneered the use of CBE to generate FAM84B loss‐of‐function TIL with enhanced antitumor activity.
Fenge Li, Xuejiao Ma, Yongming Xue, Jilong Yang, Ruijing Wang, Xiang Li, Chao Zhang, Wenhan Lu, Mei Liu, Yue Xu, Xinyi Wang, Shengnan Wu, Ning Kang, Chunhua Ma   +13 more
wiley   +1 more source

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation. [PDF]

Sci Rep
Jové-Solavera D, Rámila M, Ferrer-Cortés X, Olivella M, Venturi V, Morado M, Hernández-Rodríguez I, Khan A, Pérez-Montero S, Tornador C, Germing U, Gattermann N, Sanchez M.   +12 more
europepmc   +1 more source

Genotype‐Informed Whole‐Animal Kinome Screening Reveals Shared Kinase Vulnerabilities Across Driver Contexts in PDAC

Cancer Science, EarlyView.
Overview of experimental workflow and key findings. Clinically prevalent 2‐hit and 3‐hit PDAC genotypes were first modeled in Drosophila to enable kinome‐wide genetic screening. Candidate therapeutic targets were prioritized using human tumor expression data and pathway enrichment analyses.
Han Hai, Takako Ooshio, Hui Jiang, Taku Kimura, Yusuke Satoh, Soichiro Hata, Taiga Hirata, Jiayi Liu, Tongwei Liu, Ryodai Yamamura, Masahiro Sonoshita   +10 more
wiley   +1 more source

Modeling X chromosome inactivation using t5iLA naive human pluripotent stem cells. [PDF]

BMC Biol
Shang Y, Wang N, Wang H, An C, Sun W.
europepmc   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures

Clinical Genetics, EarlyView.
A novel rare variant of the OFD1 gene was identified in a family with dental hypoplasia, facial hypoplasia, and adult‐onset multiple atypical fractures of long bones. Another variant of the OFD1 gene was found in a woman with bisphosphonate‐associated atypical femur fracture.
Marie‐Ève Boisvert, Halim Maaroufi, Rachel Laframboise, Frédéric Fournier, Suzanne N. Morin, Edith Gagnon, Claudia Gagnon, Fabrice Mac‐Way, Mahmoud Rouabhia, Louis‐Georges Ste‐Marie, Arnaud Droit, Jacques P. Brown, Laëtitia Michou   +12 more
wiley   +1 more source

Inferring clonal somatic mutations directed by X chromosome inactivation status in single cells. [PDF]

Genome Biol
Demirci I, Larsson AJM, Chen X, Hartman J, Sandberg R, Frisén J.   +5 more
europepmc   +1 more source

The E‐cadherin‐Wnt‐mir‐994 Axis Repurposes a Cadherin Switch for Niche Robustness and Germline Stem Cell Maintenance

Cell Proliferation, EarlyView.
In the Drosophila ovarian niche, an E‐cadherin‐to‐N‐cadherin switch, mediated by Wnt‐mir‐994 signalling, is repurposed to ensure niche resilience. This compensatory mechanism maintains niche integrity and stem cell support upon E‐cadherin loss, revealing a robustness circuit.
Renjun Tu, Hiu Laam Yau, Runzhi Deng, Sarah E. Webb, Shiyuan Chen, Jianquan Ni, Ting Xie   +6 more
wiley   +1 more source