Results 131 to 140 of about 239,120 (310)

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Case Reports in Genetics, 2017
Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen   +5 more
doaj   +1 more source

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

Genetic Regulation of Alternative Polyadenylation Provides Novel Insights into Molecular Mechanisms Underlying Non‐small Cell Lung Cancer

Advanced Science, EarlyView.
Compared with the non‐risk G allele of rs9606, the risk T allele of rs9606 decreases the binding affinity of NUDT21 for LYRM4, triggering 3'UTR shortening that stabilizes LYRM4 mRNA and elevates its expression. Increased LYRM4 expression promoted malignant phenotypes of non‐small cell lung cancer (NSCLC) cells through modulating ferroptosis, supporting
Meng Jin, Yongbiao Huang, Bin Li, Yuan Wang, Yan Li, Zhirui Chen, Zhe Tang, Chaofan Liu, Lei Zhang, Xianglin Yuan, Jianbo Tian, Bo Liu   +11 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Clinical Characteristics of Subjects with a Missense Mutation in Glucokinase

Diabetic Medicine, 1995
The clinical characteristics of subjects with a missense glucokinase mutation, gly299→arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). Glucose tolerance, beta cell function and insulin sensitivity were measured with Homeostasis Model Assessment (HOMA) and with a ...
Page, R, Hattersley, A, Levy, J, Barrow, B, Patel, P, Lo, D, Wainscoat, J, Permutt, M, Bell, G, Turner, R   +9 more
openaire   +3 more sources

Inhibiting FAT1 Blocks Metabolic Bypass to Enhance Antitumor Efficacy of TCA Cycle Inhibition through Suppressing CPT1A‐Dependent Fatty Acid Oxidation

Advanced Science, EarlyView.
This study demonstrates that mutant FAT1 promotes ASCL2‐driven, CPT1A‐dependent fatty acid oxidation, leading to resistance to CPI‐613‐mediated TCA cycle inhibition in head and neck cancer. In vivo gene depletion of mutant FAT1 with LNP‐sgFAT1 suppresses tumor growth and restores CPI‐613 sensitivity, revealing a targetable metabolic bypass with ...
Fanghui Chen, Jianqiang Yang, David O. Popoola, Fan Yang, Yajie Liu, Dongsheng Wang, Zhaohui S. Qin, Zhengjia Chen, Nabil F. Saba, Zhuo G. Chen, Yamin Li, Yong Teng   +11 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

A missense mutation makes a mess of Ca2+ sensing [PDF]

Journal of General Physiology, 2017
A new JGP study shows how a disease-causing mutation in RyR2 dramatically alters channel behavior.
openaire   +2 more sources

Clinically Informed Intelligent Classification of Ovarian Cancer Cells by Label‐Free Holographic Imaging Flow Cytometry

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Quantitative phase maps of single cells recorded in flow cytometry modality feed a hierarchical architecture of machine learning models for the label‐free identification of subtypes of ovarian cancer. The employment of a priori clinical information improves the classification performance, thus emulating the clinical application of liquid biopsy during ...
Daniele Pirone, Beatrice Cavina, Daniele Gaetano Sirico, Martina Mugnano, Vittorio Bianco, Lisa Miccio, Anna Myriam Perrone, Anna Maria Porcelli, Giuseppe Gasparre, Ivana Kurelac, Pasquale Memmolo, Pietro Ferraro   +11 more
wiley   +1 more source