Results 181 to 190 of about 305,564 (250)

Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population. [PDF]

Ital J Pediatr
Giorgio V, Di Foggia C, Quatrale G, Margiotta G, Stella G, Proli F, Leoni C, Onesimo R, Passali GC, Contegiacomo A, Zampino G, Cordisco EL, Sonnini E, Gasbarrini A, Gaetani E.   +14 more
europepmc   +1 more source

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells

Advanced Science, EarlyView.
In this article, Shuai and colleagues demonstrate that metabolic remodeling drives self‐diploidization in murine haploid ESCs (haESCs). Mitochondrial dysfunction and imbalanced pyruvate metabolism underlie this process. Genome‐wide screening using haESCs identifies key mitochondrial quality‐control related genes, enabling a metabolism‐based medium that
Yi Fu, Wenhao Zhang, Yifan Zhang, Yu He, Yi Du, Yiding Zhao, Chunmeng Yao, Shengyi Sun, Xiaoyan Sheng, Qian Gao, Chao Tong, Ling Shuai   +11 more
wiley   +1 more source

Genotype/phenotype correlation in a patient with multiple abdominal and popliteal aneurysms. [PDF]

J Vasc Surg Cases Innov Tech
Correa MP, Giordani CB, Puton RC, Saleh JN, Silveira Lucas EL.   +4 more
europepmc   +1 more source

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source

Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia. [PDF]

Biomedicines
Kovacevic G, Todorovic S, Novakovic I, Dobricic V, Savic-Pavicevic D, Milic Rasic V, Svetel M, Brkusanin M, Vukomanovic V, Vucinic D, Ostojic S, Putnik J, Kosac A.   +12 more
europepmc   +1 more source

Large‐Scale Genomics Reveals Three‐Source Ancestry and Layered Adaptation to High Altitude in Tibetan Chickens

Advanced Science, EarlyView.
Whole‐genome analysis of 1,054 chickens reveals three ancestral sources (NWC, SYA, and SHF) with distinct temporal entry patterns into the Tibetan Plateau. Route‐specific selection scans, calibrated against a demographic null, suggest complementary functional enrichments—vascular homeostasis (NWC), calcium signaling and cardiac adaptation (SYA), and ...
Zongyi Zhao, Ruixue Nie, Hailu Fan, Tenzin Ngodroup, Li Zhu, Hongbin Pan, Bo Zhang, Hao Zhang   +7 more
wiley   +1 more source

Genotype-Phenotype Correlation and Therapeutic Amenability in a Cohort of Rett Syndrome Patients: A Single-Center Study. [PDF]

Cureus
Lazek R, Karoum A, Fathalla W.
europepmc   +1 more source

MG53 Coordinates Macrophage Polarization and Neuroimmune Coupling to Promote Corneal Nerve Regeneration via the MPEG1–MVP–STAT6 Axis

Advanced Science, EarlyView.
Corneal nerve regeneration is critical to corneal wound healing processes. The current study reveals a novel role of MG53 in promoting corneal nerve regeneration after alkali induced injury. Mechanistically, MG53 enters macrophages via its receptor, MPEG1, promotes MVP K63 ubiquitination, and triggers STAT6 induced repair‐related genes expression ...
Peng Chen, Zhentao Zhang, Lilian Sakai, Yanping Xu, Luxi Zhang, Han Ye, William Sollenberger, Takahide Ikeda, Zhiyu Yan, Keerthika Sathish, Usman Alizai, Haitao Wen, Timothy M. Pawlik, Heather L. Chandler, Hua Zhu   +14 more
wiley   +1 more source

Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management. [PDF]

Genes (Basel)
D'Esposito F, Gagliano G, Gagliano C, Maniaci A, Avitabile A, Giglio R, Reibaldi M, Cordeiro MF, Zeppieri M.   +8 more
europepmc   +1 more source

The BnTFL1‐BnJAM3‐BnSWEETs Module Orchestrates Seed Storage Reserve Accumulation in Brassica napus

Advanced Science, EarlyView.
BnaC03.TFL1 and BnaA01.JAM3 form a complex that facilitates the transport of soluble sugars from the seed coat to the embryo by directly activating the expression of BnSWEETs. Furthermore, BnaC03.TFL1 and BnaA01.JAM3 work cooperatively to promote soluble sugar and oil production while suppressing protein deposition.
Jianjun Wang, Zijin Liu, Minshan Jin, Junting Liu, Shihao Wei, Dengmao Yang, Saiqi Yang, Yuan Guo, Mingxun Chen   +8 more
wiley   +1 more source