Results 151 to 160 of about 178,485 (305)

Pharmacogenomics of Major Depressive Disorder in Indigenous Amazonian Populations

Clinical Pharmacology &Therapeutics, EarlyView.
Major depressive disorder is a highly prevalent psychological disorder worldwide and its main treatment is the use of Selective Serotonin Reuptake Inhibitors. However, few studies have demonstrated the relationship between the presence of genetic variants in pharmacogenes and the efficacy of these drugs, especially in populations with a unique genetic ...
Kaio Evandro Cardoso Aguiar, Natasha Monte da Silva, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐dos‐Santos, Sandro José de Souza, Ândrea Ribeiro‐dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +9 more
wiley   +1 more source

Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review [PDF]

Ileana-Delia Săbău, Laurențiu Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceauşu   +7 more
openalex   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Tumor diversity and evolution revealed through RADseq [PDF]

, 2017
Altshuler, Beal, Begum, Blaxter, Bos, Broaddus, Burdett, Butte, Caccamo, Cai, Caldas, Choy, Cresko, Cresko, Cuppen, da Silveira, De, DePristo, Durbin, Felsenstein, Gatenby, Getz, Goldberg, Greaves, Hoekstra, Hohenlohe, Hynes, Iacobuzio-Donahue, Johnson, Johnson, Katzen, Kawakami, Kernytsky, Kramer, Leder, Look, Lupski, Magi, Maley, Martincorena, Mesirov, Miller, Mullins, Nowak, Nowak, Nowak, Nowell, Parmigiani, Pawlik, Polyak, Polyak, Postlethwait, Pyeritz, Quake, Raible, Scholl, Schultz, Somers, Swanton, Townsend, Vogelstein, Weinberg, Weir, Westerfield, Yaeger, Zon, Zon   +66 more
core   +2 more sources

Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study [PDF]

, 2023
Yingying Shen, Qi Liu, Hangchao Li, Wenbin Liu, Huijin Hu, Yuechao Zhao, Yuzhu Li, Ying Chen, Shan Liu, Qinghong Yu, Haifeng Zhuang, Liqiang Wu, Zhiping Hu, Zhiyin Zheng, Jianping Shen, Shenyun Lin, Yiping Shen, Yuhong Zhou, Baodong Ye, Dijiong Wu   +19 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Novel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma [PDF]

, 2017
Narjes Forouzanfar, Ancha Baranova, Saman Milanizadeh, Alireza Heravi‐Moussavi, Amir Jebelli, Mohammad Reza Abbaszadegan   +5 more
openalex   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

, 2020
Ying Peng, Jinxin Miao, Yafei Zhai, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
openalex   +1 more source

ECOLE: Learning to call copy number variants on whole exome sequencing data [PDF]

, 2022
Berk Mandiracioglu, Furkan Özden, Gün Kaynar, Mehmet Alper Yılmaz, Can Alkan, A. Ercüment Çiçek   +5 more
openalex   +1 more source