Results 111 to 120 of about 1,080,409 (319)

Development and Validation of Novel Diagnostic Models for Biliary Atresia in a Large Cohort of Chinese PatientsResearch in Context

EBioMedicine, 2018
Background & aims: The overlapping features of biliary atresia (BA) and the other forms of neonatal cholestasis (NC) with different causes (non-BA) has posed challenges for the diagnosis of BA.
Rui Dong, Jingying Jiang, Shouhua Zhang, Zhen Shen, Gong Chen, Yanlei Huang, Yijie Zheng, Shan Zheng   +7 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center

International Journal of Women's Health
Qian Zhang,* Yuhong Guo,* Bin Liang, Meihuan Chen, Xiaoqing Wu, Na Lin, Hailong Huang, Liangpu Xu Department of Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity ...
Zhang Q, Guo Y, Liang B, Chen M, Wu X, Lin N, Huang H, Xu L   +7 more
doaj  

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Defect-Polaron and Enormous Light-Induced Fermi-Level Shift at Halide Perovskite Surface

, 2022
Halide perovskites intrinsically contain a large amount of point defects. The interaction of these defects with photocarriers, photons, and lattice distortion remains a complex and unresolved issue.
Ghadah Alkhalifah (11112803), Shanika Wanigasekara (11427400), Wai-Lun Chan (1288059), Judy Z. Wu (3860758), Angelo D. Marshall (11112800), Fatimah Rudayni (9305849)   +5 more
core   +1 more source

Two laser-assisted hatching methods of embryos in ART: a systematic review and meta-analysis

BMC Pregnancy and Childbirth
Background Laser-assisted hatching (LAH) stands as the predominant technique for removing the zona pellucida (ZP) in embryos, primarily consisting of two methods: drilling laser-assisted hatching (D-LAH) and thinning laser-assisted hatching (T-LAH ...
Kexin Chen, Mengying Gao, Yao Wu, Zhixin Hu, Lu Tang, Minyao Li, Mei Tian, Hao Cui, Yanrong Huang, Youzhen Han, Lei Li, Yonggang Li, Yunxiu Li, Ze Wu, Zouying Tang, Ronghui Zhang, Yuerong Wu, Yizhi Zhang, Yan Guo, Hongqing Zhang, Lifeng Xiang, Jiacong Yan   +21 more
doaj   +1 more source

Decreased cold‐sensing function of the transient receptor potential channel TRPM8 from tailed amphibians

FEBS Open Bio, EarlyView.
Despite frogs avoiding low temperatures, examination of four salamander species revealed that none avoided cold and all possessed cold tolerance. Functional analysis of TRPM8, a cold sensor, showed that all salamander TRPM8s had lost their cold sensitivity.
Tadahiro Sawao, Daiki Kobayashi, Shogo Hori, Osamu Saitoh   +3 more
wiley   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source