Results 181 to 190 of about 305,611 (291)

Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants. [PDF]

Int J Mol Sci
Singha K, Pansuwan A, Fucharoen G, Fucharoen S.   +3 more
europepmc   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience. [PDF]

Future Sci OA
Nguyen THT, Nguyen NTT, Chu HPT, Tran HNT, Duong NM, Lu YT, Tang HS, Tran DT, The Nguyen PN.   +8 more
europepmc   +1 more source

Natural Variation of NAR5 Determines Nitrogenase Activity and the Yield in Soybean

Advanced Science, EarlyView.
This study identified NAR5, a gene encoding a subtilisin‐like protease, that regulates nitrogenase activity in soybean nodules. Overexpressing NAR5 delayed nodule senescence, enhancing nitrogenase activity, yield, and low‐nitrogen tolerance. The elite haplotype NAR5HapI‐1 linked to superior nitrogenase activity and greater seed weight has been ...
Chao Ma, Hanyu Zhao, Haojie Feng, Xulun Dong, Lin Chen, Mingliang Yang, Runyi Chen, Chengjun Lei, Chunyan Liu, Qingshan Chen, Dawei Xin, Jinhui Wang   +11 more
wiley   +1 more source

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders. [PDF]

Stem Cell Reports
Hommersom MP, Puvogel S, Scheefhals N, Carpentiero E, Bouma M, van Beusekom E, Dillen L, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H.   +9 more
europepmc   +1 more source

NSUN5 Attenuates Renal Injury and Ferroptosis in Hyperuricaemic Nephropathy Through YBX2‐Dependent Stabilisation of SCD1 m5C Methylation

Advanced Science, EarlyView.
NSUN5 is downregulated in hyperuricaemic nephropathy. Overexpression of NSUN5 enhances the stability of SCD1 mRNA through the m5C reader YBX2, ultimately inhibiting ferroptosis in renal tubular epithelial cells. Additionally, this axis suppresses the NF‐κB signaling pathway to alleviate inflammation and upregulates ABCG2 to promote uric acid excretion,
Xiu‐xiu Song, Xiao‐guo Suo, Yue Yu, Kuo Zhang, Chen‐ao Li, Jie Wang, Hui‐xia Xu, Si‐yu Niu, Dong‐xue Lv, Zi‐hao He, Feng‐he Li, Xiao‐ming Meng, Juan Jin   +12 more
wiley   +1 more source

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes. [PDF]

Genes (Basel)
Yapijakis C, Gintoni I, Chamakioti M, Koniari E, Papanikolaou E, Kassi E, Vlachakis D, Chrousos GP.   +7 more
europepmc   +1 more source

FASLG Derived from Fibroblasts in Hydroxyapatite‐Rich Microenvironment Induces Urothelial Anoikis to Trigger Randall's Plaque Exposure

Advanced Science, EarlyView.
Randall's plaques (RP) serve as the nidus for calcium oxalate (CaOx) kidney stones. The current study reveals that hydroxyapatite (HAP) crystals activate the THY1–GSK3α/β–β‐catenin axis in renal interstitial fibroblasts (hRIFs), inducing FASLG secretion.
Minghui Liu, Maolan Wu, Meng Gao, Yongchao Li, Miao Yuan, Zhangcheng Liao, Zhi Liu, Yizhou Wang, Yu Cui, Jinbo Chen, Cheng He, Zhiyong Chen, Feng Zeng, Hequn Chen, Zewu Zhu   +14 more
wiley   +1 more source

CYP2C:TG Haplotype in Native Mexicans, Molecular Ancestry and Its Implications for CYP2C19 Genotype-Phenotype Correlation. [PDF]

Pharmaceuticals (Basel)
de la Cruz CG, Torso NG, Villatoro-García JA, Mata-Martín C, Rodrigues-Soares F, Galaviz-Hernández C, Peñas-Lledó E, Sosa-Macías M, LLerena A, Ribef-Iberofen Consortium.   +9 more
europepmc   +1 more source

First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria

Advanced Science, EarlyView.
We report the first PROTACs designed to degrade progerin, introducing a novel therapeutic approach for progeria. The best compound, UCM‐18142, significantly reduces progerin levels and improves key disease phenotypes in patient‐derived cells and in the LmnaG609G/G609G mouse model, paving the way for new treatment strategies targeting the root cause of ...
Jon Macicior‐Michelena, Marcelino Telechea, Daniel Fernández, Alba García‐Martín, Ángeles Canales, Silvia Ortega‐Gutiérrez   +5 more
wiley   +1 more source