Results 241 to 250 of about 241,061 (333)

Extragenic suppression of motA missense mutations of Escherichia coli

, 1996
Anthony G. Garza, Philip A. Bronstein, Patricia A. Valdez, Larry W. Harris-Haller, Michael D. Manson   +4 more
openalex   +1 more source

Saccharomyces cerevisiae pms2 Mutations Are Alleles of MLH1, and pms2-2 Corresponds to a Hereditary Nonpolyposis Colorectal Carcinoma-Causing Missense Mutation [PDF]

, 1996
Ayyamperumal Jeyaprakash, Ruchira Das Gupta, Richard D. Kolodner   +2 more
openalex   +1 more source

Intrafamilial Variability in WARS2‐Related Disorder: A Family Case

Movement Disorders Clinical Practice, EarlyView.
Federica Graziola, Federica Rachele Danti, Giorgia Segre, Morgana Fregonese, Rossella Izzo, Eleonora Lamentea, Daniele Ghezzi, Anna Ardissone, Giovanna Zorzi   +8 more
wiley   +1 more source

Identification of PPFIA3 as a Potential Prognostic and Immune Biomarker Through Pan‐Cancer Analysis

Organ Medicine, EarlyView.
This study reveals a significant increase in the expression of PPFIA3 across various cancers, which is associated with poor prognosis. Notably, in patients receiving anti‐PD‐L1 treatment, high PPFIA3 expression is closely linked to improved survival rates and favorable prognosis, suggesting its potential as a predictive factor for immune checkpoint ...
Xianghong Wang, Rong Lin, Chuanchuan Sun, Niujian Wu, Hongyun Lu   +4 more
wiley   +1 more source

Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus. [PDF]

Sci Rep
Saud HA, O'Neill PA, Ring BC, Kudoh T.
europepmc   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Mucinous cystic neoplasms and simple mucinous cysts are two distinct precursors of pancreatic cancer: clinicopathological, genomic, and transcriptomic characterization

The Journal of Pathology, EarlyView.
Abstract Mucinous cystic neoplasms (MCNs) of the pancreas are macroscopic precursors of pancreatic cancer. A similar cystic lesion but lacking the ovarian‐type subepithelial stroma has been recently defined as a simple mucinous cyst (SMC); however, its nature remains unclear. This study aims to define the clinicopathological and molecular profiles of a
Antonio Pea, Michele Bevere, Anastasios Gkountakos, Davide Pasini, Denise Fiorini, Andrea Mafficini, Stela Golovco, Michele Simbolo, Serena Pedron, Concetta Sciammarella, Paola Mattiolo, Aldo Mombello, Manuela Villanova, Carlotta Franzina, Francesca Masetto, Calogero Ciulla, Nicola Sperandio, Kohei Fujikura, Masha S. Ahadi, Jaswinder S. Samra, Amber L. Johns, Joanne Verheij, Martijn W.J. Stommel, Hjalmar van Santvoort, Leonor Schubert Santana, Giuseppe Malleo, Michele Milella, Lodewijk A. A. Brosens, Laura D. Wood, David K. Chang, Riccardo De Robertis, Mirko D'Onofrio, Anthony J. Gill, Roberto Salvia, Vincenzo Corbo, Rita T. Lawlor, Aldo Scarpa, Claudio Luchini   +37 more
wiley   +1 more source

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3. [PDF]

Front Neurol
Liu H, Dong J, Xie Z, Yu L.
europepmc   +1 more source

Deep Brain Stimulation Improves Symptoms in an Individual with Alpha‐Synuclein‐Gene‐Associated Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abigail Braun, Dion Basson, Shahida Moosa, Jonathan Carr, Soraya Bardien, Riaan van Coller   +5 more
wiley   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source