Results 101 to 110 of about 72,863 (253)

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

Natural Variation of COLD and CATECHINS REGULATOR 1 Coordinately Fine‐Tunes Cold Tolerance and Tea Quality in Tea Plants

Advanced Science, EarlyView.
Multi‐trait genome‐wide association mapping identifies a central hub regulator, COLD AND CATECHINS REGULATOR 1 (CCR1), and its excellent natural allele variation, coordinately enhancing cold tolerance and promoting catechins biosyntheis. CsCCR1 interacts with CsCBF1/3 and is transcriptionally activated by CsLUX and CsKUA1 to promote catechins ...
Yanli Wang, Wei Tong, Qiong Wu, Didi Wu, Yanrui Zhang, Qijuan Gao, Fangdong Li, Zhaoliang Zhang, Wenjie Wang, Chuankui Song, Enhua Xia   +10 more
wiley   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Slc44a2 Deficiency Unveils an IFN‐I–Dependent Feedback Control of pDC Egress

Advanced Science, EarlyView.
Working model of SLC44A2‐mediated maintenance of pDC homeostasis. This model illustrates two central mechanisms by which SLC44A2 regulates pDC homeostasis: (1) SLC44A2 limits IFN‐I production by exporting amino acids (T, N, Q), thereby preventing spontaneous pDC activation.
Ruiqun Chen, Tao Wu, Zhen Shi, Ravi Kumar Verma, Linlin Sheng, Lei Tao, Mingming Yang, Yuchen Wang, Conggang Zhang, Hao Fan, Li Wu, Ligong Chen   +11 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source