Results 101 to 110 of about 20,395,316 (257)

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts

Frontiers in Medicine
BackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter.
Zhao-Jing Lin, Jie-Yi Long, Juan Li, Fang-Na Wang, Wei Chu, Lei Zhu, Ya-Li Li, Liang-Liang Fan   +7 more
doaj   +1 more source

Analyzing c-Maf Functions in Mice and Searching for a Possible c-Maf Inhibitor as a Therapeutic Agent for Diabetes and Nephropathy.

Analyzing c-Maf Functions in Mice and Searching for a Possible c-Maf Inhibitor as a Therapeutic Agent for Diabetes and Nephropathy.
2023
  +6 more sources

Systematic pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

Animal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

c-MAF protein expression in multiple myeloma

Oncohematology
Background. The c-MAF oncogene, located in the 16q23.2 region, encodes the protein of the same name, a transcription factor whose role continues to be studied. Given the activating effect of the c-MAF transcription factor in enhancing the interaction between the tumor cell and the bone marrow stroma, we hypothesized that c-MAF protein expression would ...
M. V. Solov’eva, M. V. Solov’ev, M. V. Melnikova, A. M. Kovrigina, T. N. Obukhova, L. P. Mendeleeva   +5 more
openaire   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

Annals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko, Kalliopi Mavromati, Lynne Hughes, Jonas S. Sundarakumar, Keeley Brookes, Kevin Morgan, Terry Quinn, Valentina Escott‐Price, the Alzheimer's Disease Neuroimaging Initiative   +8 more
wiley   +1 more source

Environmental and Genetic Effects on the Composition of Palm Oil From Hybrid Plant Clones of Caiaué and Oil Palm

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT The interspecific hybrids (IEH OxG) obtained from the crossing of Elaeis oleifera (Eo) and Elaeis guineensis (Eg) are resistant to some diseases that affect Eg in some regions of South America, and commercial growing in several countries has been established.
Rosemar Antoniassi, Ricardo Lopes, Sidney Pacheco, Allan Eduardo Wilhelm, Rui Alberto Gomes Junior, Adelia Ferreira de Faria‐Machado, Raimundo Nonato Vieira Cunha   +6 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source