Results 171 to 180 of about 260,440 (253)

A Conserved DT2‐bZIP66‐NF‐YC4 Regulatory Module Confers Drought Tolerance in Rice and Arabidopsis

Advanced Science, EarlyView.
This study identifies a conserved tripartiteDT2–bZIP66–NF‐YC4 transcriptional module that enhances rice drought tolerance by activating stress‐responsive genes. This regulatory complex is functionally conserved across cereals and Arabidopsis, providing promising targets for engineering drought‐resilient crops. ABSTRACT Drought stress severely restricts
Jun Shen, Yuchen Li, Liang Zhang, Xiaosong Ma, Chenyin Peng, Chunting Yuan, Yu Wu, Kaiyu Zhao, Sheng Zhao, Jiazhuo Guo, Run Li, Ziqian Yan, Shule Ren, Yige Han, Xin Lin, Xinyue Li, Ming Li, Pingfang Yang, Shiyong Song   +18 more
wiley   +1 more source

Pervasive non-triplet alternative splicing drives functional isoform diversity. [PDF]

Nat Commun
Athavudeen S, Issac N, Norris A.
europepmc   +1 more source

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source

Coordinated alternative splicing decisions via stepwise exon definition. [PDF]

Nucleic Acids Res
Kristofori P, Xiao Z, Braun S, Busch A, Zarnack K, König J, Legewie S, Li C.   +7 more
europepmc   +1 more source

Exon [PDF]

, 2020
openaire   +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

Refining breast cancer risk estimation in carriers of pathogenic <i>BRCA2</i> variants. [PDF]

Transl Cancer Res
Conde DM, Sandoval RL.
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Exonic enhancers are a widespread class of dual-function regulatory elements. [PDF]

Nat Commun
Mouren JC, Torres M, van Ouwerkerk A, Manosalva I, Gallardo F, Spicuglia S, Ballester B.   +6 more
europepmc   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source