Results 201 to 210 of about 74,896 (309)

Population structure and domestication history of the Javan banteng.

Curr Biol
Wang X, Aninta SG, Garcia-Erill G, Li Z, Khan A, Liu X, Bertola LD, Dharmayanthi AB, Yulianto, Yonathan, Rossi C, Cauble-Sims R, Rosen BD, Hagen DE, Heaton MP, Smith TPL, Lenstra JA, Martins NFG, Sinding MS, Agil M, Purwantara B, Hvilsom C, Semiadi G, Heller R.   +23 more
europepmc   +1 more source

Research note: Integration of GWAS and RNA-seq identifies mutations linked to within feather patterning in domestic chickens. [PDF]

Poult Sci
Guo H, Chen Y, Guo Y, Wang B, Li J.
europepmc   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models. [PDF]

Front Genet
Kong L, Wang J, Zheng J, Yang X, Sun R, Kou J, Yao Y, Li F, Wang F, Guo S.   +9 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

An improved seam carving method for enhancing the visual field of tunnel vision patients. [PDF]

Sci Rep
El-Torky D, El-Regaily S, Moadamani A, Osama A, Mostafa A, Yasser A, Ghaley M, Ashraf S, Al-Berry M, Fayed Z.   +9 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Predicting Pathogenicity of <i>TSHR</i> Missense Variants of Uncertain Significance: An Integrative Computational Study. [PDF]

Int J Mol Sci
Hajali TA, Ahmed Omer II, Rezk MY, Hamdan HZ.   +3 more
europepmc   +1 more source

Establishment of a chronic aspiration pneumonia mouse model using oropharyngeal aspiration of food suspension

Animal Models and Experimental Medicine, EarlyView.
Four aspiration methods (UV, IN, IT, and OA) were compared, and OA was identified as the most effective delivery technique. A chronic aspiration pneumonia model was then established through repeated OA of food suspension or gastric contents. Integrated analyses, including micro‐CT, histopathology, cytokine profiling, and RNA sequencing, revealed ...
Qianwen Li, Fansen Lin, Hongzhi Gao, Yun Zhao, Yuqi Liu   +4 more
wiley   +1 more source