Results 191 to 200 of about 305,564 (250)

Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases. [PDF]

Front Neurosci
Zhao T, Chen F, Cao B, Yang L, Yin J, Li Y, Feng F.   +6 more
europepmc   +1 more source

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

Advanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo, Jinxiu Li, Adeniyi C. Adeola, Xueyan Jiang, Juntao Ma, Jian Xiao, Dexiang Hu, Kaixing Qu, Haihong Wu, Junren Chen, Zhanxing He, Tingting Yin, Ali Esmailizadeh, Jing Luo, Olivier Hanotte, Ya‐Ping Zhang, Yan Li   +16 more
wiley   +1 more source

Alzheimer's Disease Risk Factor APOE4 Exerts Dimorphic Effects on Female Bone

Advanced Science, EarlyView.
In aging bone, osteocytes accumulate neurodegenerative risk factor Apolipoprotein E (APOE). A humanized version of the Alzheimer's disease risk allele APOE4 altered the mouse bone transcriptome and proteome, with effects in female bone surpassing the brain, including bone fragility due to suppressed osteocytic maintenance of bone quality, identifying ...
Charles A. Schurman, Gurcharan Kaur, Serra Kaya, Joanna Bons, Carlos Galicia Aguirre, Qi Liu, Christina D. King, Kenneth A. Wilson, Harrison L. Baker, Mikayla Hady, Nadja Maldonado Luna, Gregor Bieri, Saul A. Villeda, Lisa M. Ellerby, Birgit Schilling, Tamara Alliston   +15 more
wiley   +1 more source

Multi‐Omics Insights Into the Mechanisms of Early Muscle Fiber Difference and Transformation Between Lean‐Type and Chinese Indigenous Pigs

Advanced Science, EarlyView.
Multi‐omics analyses uncover breed‐specific cis‐regulatory landscapes and higher‐order chromatin architectural differences that underlie early postnatal muscle fiber divergence in pigs. A super‐enhancer upstream of PPP3CB recruits MEF2C to activate PPP3CB transcription, while the PPP3CB–MEF2C positive feedback loop promotes oxidative muscle fiber ...
Shuailong Zheng, Hainan Wu, Min Liu, Kunpeng Wu, Shuntao Huang, Zulfiqar Ahmed, Lenox Pius, Mengjin Zhu, Dequan Xu   +8 more
wiley   +1 more source

Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible? [PDF]

Mol Syndromol
Koyuncuoglu MA, Taylan Sekeroglu H, Urel Demir G, Simsek Kiper O, Karakaya J, Utine GE.   +5 more
europepmc   +1 more source

Introgressed Variation in TaMYB7‐A1 Drives Graded Dormancy and Climate‐Adaptive Pre‐Harvest Sprouting Resistance in Wheat

Advanced Science, EarlyView.
TaMYB7‐A1 directly activates TaABI5 to enhance ABA signaling and regulate ABA‐GA homeostasis, enforcing seed dormancy. Its superior allele, derived from wild einkorn introgression, harbors a MITE insertion that elevates expression and two amino acid substitutions that enhance transcriptional activity, collectively generating graded PHS resistance for ...
Hao Wang, Dongzhi Wang, Yafei Guo, Qi Zheng, Min Zhang, James Simmonds, Jian Hou, Xuemei Liu, Xuelei Lin, Xiaomin Bie, Xiansheng Zhang, Xiaohui Li, Yuan Chen, Xueyong Zhang, Cristobal Uauy, Fei Lu, Chengcai Chu, Zhixi Tian, Jun Xiao   +18 more
wiley   +1 more source

Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation. [PDF]

Pigment Cell Melanoma Res
Berkman J, Maas EJ, DeBortoli E, Primiero CA, Soyer HP, McInerney-Leo A.   +5 more
europepmc   +1 more source

PRMT5/Sohlh2/Sirt1 Signaling Pathway in Vascular Endothelial Cells Modulates Lung Metastasis of Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
The cover image shows that vascular endothelial cells play an important role in lung metastasis of TNBC. Endothelial Sohlh2 acts as a gatekeeper against TNBC lung metastasis by limiting endothelial activation and tumor cell passage. PRMT5 reduces Sohlh2 stability, weakening this protective barrier.
Ruihong Zhang, Fengqin Wang, Lanlan Liu, Qi Zhang, Xiaoning Huo, Yanhui Nan, Yanli Dong, Yunling Xiao, Jing Hao   +8 more
wiley   +1 more source

New variants and genotype-phenotype correlation of <i>PPP3CA</i>-related developmental and epileptic encephalopathy. [PDF]

Front Neurosci
Wang T, Ouyang S, Niu X, Cheng M, Yang Y, Yang Y, Tan Q, Liu W, Yang X, Zhang Y.   +9 more
europepmc   +1 more source