Results 81 to 90 of about 57,151 (301)

Tandem Duplication‐Driven Neofunctionalization of UDP‐Glycosyltransferases Shapes the Diversification of Triterpenoid Saponins in the Cucurbitaceae

Advanced Science, EarlyView.
We present a chromosome‐level genome assembly of Siraitia grosvenorii and, through comparative genomics, uncover a conserved UGT73 tandem array driving triterpenoid saponin diversification in Cucurbitaceae. Crystalized SgUGT73AM30 further reveals the regioselectivity mechanism underlying its catalytic activity.
Guangyi Wang, Mengmeng Li, Xuehui Dai, Yanchen Zhang, Yuhan Wu, Zhaotao Yan, Chenfei Tian, Hongkai Fan, Haili Liu, Xiaowei Zhang, Yiming Yang, Jiayu Lu, Yuwei Sun, Yong Wang   +13 more
wiley   +1 more source

Multi‐tissue Metabolic GWAS and Drought‐Responsive Multi‐omics Reveal the Genetic Basis of the Quinoa Metabolome

Advanced Science, EarlyView.
A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker, Elodie L. Rey, Clara Stanschewski, Regina Wendenburg, Annabella Klemmer, Markéta Macho, Venkatesh P. Thirumalaikumar, Noha O. Saber, Aleksandra Skirycz, Alisdair R. Fernie, Mark Tester, Saleh Alseekh   +11 more
wiley   +1 more source

Heterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening [PDF]

, 2015
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm ...
Soardi F.C., Justo G.Z., Coeli F.B., Sofia H.V.L.-M., Maricilda P.D.-M., Maturana V.G., Da Silva M.D.B., Bernardi R.D.   +7 more
core  

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka = Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia [PDF]

, 2018
Absztrakt: A congenitalis adrenalis hyperplasiát 7 monogénes genetikai betegség összességének tekintjük, melyekből az egyik a szteroid-21-hidroxiláz-deficientia.
Doleschall, Márton, Halász, Zita, Patócs, Attila Balázs, Márton Doleschall, Fekete, György, Katalin Mészáros, Tóth, Miklós, Szücs, Nikolette, Nikolette Szücs, Attila Patócs, Zita Halász, Mészáros, Katalin, Krisztina Németh, Igaz, Péter, Sólyom, János, Patócs, Attila, Miklós Tóth, Dóra Török, Péter Igaz, János Sólyom, Andrea Luczay, Kiss, Róbert, György Fekete, Németh, Krisztina, Judit Tőke, Róbert Kiss, Tőke, Judit, Török, Dóra, Luczay, Andrea   +28 more
core   +1 more source

Déficit de 21-hidroxilasa: aspectos actuales Deficiency of 21-hydroxylase: current aspects

Revista de Ciencias Médicas de Pinar del Río, 2009
La hiperplasia suprarrenal congénita (HSC) es una de las alteraciones autosómicas recesivas más frecuentes, caracterizada por un defecto enzimático en la síntesis de cortisol, la causa es en el 95% de los casos, la deficiencia de la enzima 21-hidroxilasa
Deysi Licourt Otero, Martha María Pérez Martín   +1 more
doaj  

SiDT1 Defines Plant Architecture Reminiscent of Green Revolution in Foxtail Millet

Advanced Science, EarlyView.
SiDT1 encodes a GA3‐oxidase that creates a semi‐dwarf, lodging‐resistant architecture reminiscent of the rice Green Revolution. The resulting ideotype performs well under dense planting and provides a valuable genetic resource for high‐yield, mechanized foxtail millet production. ABSTRACT Foxtail millet (Setaria italica) is a drought‐tolerant C4 cereal
Jianzhen Lv, Jinjin Cheng, Zhen Hu, Qian Lan, Yanjun Yang, Chengcheng Pei, Junhao Luo, Zhuang Li, Peiyong Xin, Jijun Yan, Jinfang Chu, Qian Qian, Zhaosheng Kong, Liang Jiang   +13 more
wiley   +1 more source

Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency [PDF]

, 2006
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders most often caused by enzyme 21-hydroxylase deficiency. Most mutations causing enzymatic deficiency are generated by recombinations between the active gene CYP21 and the ...
Malaponti, M, PORZIO, OTTAVIA, FEDERICI, GIORGIO, Testi, M, Cavallo, L, Giardina, E, GIARDINA, EMILIANO, Cappa, M, De Nisco, E, Porzio, O, Cunsolo, V, Acquafredda, A, Andreani, M, Federici, G   +13 more
core   +1 more source

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Molecular Genetics & Genomic Medicine, 2019
Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms.
Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga   +6 more
doaj   +1 more source

Reimagining Lignin Valorization: Synthetic Biology–Enabled Sustainable Aromatic Carbon Biomanufacturing

Advanced Science, EarlyView.
The diagram illustrates a sustainable model of lignin valorization and carbon cycling based on microbial cell factories. Using lignin as the feedstock, synthetic biology technologies, including depolymerization, cell factory construction, pathway gene module integration, and metabolic network regulation, are applied to convert lignin into bulk ...
Na Li, Jun‐Jie Zhangyang, Bing‐Zhi Li, Zhi‐Hua Liu, Ying‐Jin Yuan   +4 more
wiley   +1 more source

Intratumoral Hypoxia Triggers Mitochondrial BHLHE40 ROS Sensing Pathway to Promote Radioresistance in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
Hypoxia triggers a dual mechanism for BHLHE40 upregulation: reactive oxygen species (ROS)‐dependent post‐translational modification and hypoxia‐inducible factor (HIF)‐dependent transcriptional activation. Under hypoxic conditions, mitochondrial BHLHE40 accumulates and senses ROS via cysteine thiol oxidation and disulfide‐linked homodimer formation ...
Jia Liu, Ziliang Nie, Xi Chen, Guangyu Ji, Yajing Zhang, Zhiqun Zhao, Yuhong Zhang, Xinlong Du, Zhenzhen Zhou, Jiayi Li, Yaozong Yang, Fengqi Sun, Zhibo Yan, Haiquan Lu   +13 more
wiley   +1 more source