Results 331 to 340 of about 1,041,152 (399)

Cataract‐Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation

Exploration, EarlyView.
This study investigated the role of the βB2‐crystallin c.562C>T (p.R188C) mutation in congenital cataract. Clinical pedigree analysis, combined with whole‐exome sequencing (WES), identified this pathogenic variant. Bioinformatic analyses predicted destabilization of the mutant protein’s tertiary structure, potentially impairing its function.
Yibo Yu, Silong Chen, Ying Zhang, Hang Song, Jiarui Guo, Chengpeng Wu, Wei Wu, Jingjie Xu, Xiaoyu Cheng, Chenqi Luo, Jing Guo, Yip Chee Chew, Ke Yao, Xiangjun Chen, Lidan Hu   +14 more
wiley   +1 more source

Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA. [PDF]

Sci Rep
Tábuas-Pereira M, Brás J, Taipa R, Del Tredici K, Paquette K, Chaudhry S, DenHaan K, Durães J, Lima M, Bernardes C, Carmona S, Baldeiras I, Almeida R, Santana I, Guerreiro R.   +14 more
europepmc   +1 more source

FIRST PHARMACOGENOMIC ANALYSIS USING WHOLE EXOME SEQUENCING TO IDENTIFY NOVEL GENETIC DETERMINANTS OF CLOPIDOGREL RESPONSE VARIABILITY: RESULTS OF THE GENOTYPE INFORMATION AND FUNCTIONAL TESTING (GIFT) EXOME STUDY

, 2012
Matthew J. Price, Andrew R. Carson, Sarah S. Murray, Tierney Phillips, L Huffman Janel, Rebecca L. Tisch, Eric J. Topol, Samuel Lévy   +7 more
openalex   +1 more source

Genome Editing Technologies to Improve Health‐Related Phytocompounds in Crops

Food Frontiers, EarlyView.
ABSTRACT Due to rapid global population growth and the resulting significant increase in food demand, the world is facing an epidemic of malnutrition. Although yield improvement remains one of the main targets of breeding programs, much attention is being paid to the nutritional aspects of crops, including nutrients and bioactive compounds that are ...
Maria Dellino, Claudio de Giovanni, Monica Marilena Miazzi, Cinzia Montemurro, Domenica Nigro   +4 more
wiley   +1 more source

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]

Front Endocrinol (Lausanne)
Zhang N, You S, Guo J, Chang X, Qiu J, Hua K.   +5 more
europepmc   +1 more source

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

, 2012
Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin A. Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler   +6 more
openalex   +2 more sources

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure, EarlyView.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
wiley   +1 more source

Fibroblasts and hiPS‐Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype

Glia, EarlyView.
CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease. ABSTRACT COASY protein‐associated neurodegeneration (CoPAN) is a rare autosomal recessive disorder within the ...
Anna Cozzi, Paolo Santambrogio, Andrea Stefano Moro, Alessio Pelagatti, Alicia Rubio, Chiara Balestrucci, Ivano Di Meo, Valeria Tiranti, Sonia Levi   +8 more
wiley   +1 more source

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis. [PDF]

Clin Rheumatol
Ozer L, Koksal H.
europepmc   +1 more source

Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome

, 2012
Emmelien Aten, Yu Sun, Rowida Almomani, Gijs W.E. Santen, Tobias Messemaker, Saskia M. Maas, Martijn H. Breuning, Johan T. den Dunnen   +7 more
openalex   +1 more source