Results 151 to 160 of about 458,798 (262)

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

AKAP1 enhances glycogen accumulation and hepatocarcinogenesis through YTHDF2-mediated G6PC mRNA decay. [PDF]

Signal Transduct Target Ther
Yang T, Zhang J, Zhao Z, Cheng S, Yan Z, Wang W, Wang G, Zhang R, Zhang Z, Yuan P, Zheng X, Zhang H, Li J, Xing J.   +13 more
europepmc   +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

Thermostable Bioluminescent Intercalating Dyes for Real‐Time, Integrated Nucleic Acid Amplification and Detection

Angewandte Chemie, EarlyView.
We present a bioluminescent diagnostic platform that integrates DNA amplification and detection in a single step. The engineering of thermostable luciferase‐intercalating dye conjugates and controlled release of caged luciferin substrates enable real‐time, detection of attomolar concentrations of viral DNA within 30 min.
Yosta de Stigter, Harmen J. van der Veer, Sterre de Lignie, Robbert J. de Haas, Renko de Vries, Joost P. H. Schoeber, Anne J. M. Loonen, Adriaan J. C. van den Brule, Maarten Merkx   +8 more
wiley   +2 more sources

The eIF5-mimic protein 5MP1: a regulator of translation stringency and a multifaceted oncogene. [PDF]

J Biochem
Banerjee A, Brooke G, Ishiguro S, Asano K.   +3 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

[Expression of Concern] Dexmedetomidine protects against sepsis‑associated encephalopathy through Hsp90/AKT signaling. [PDF]

Mol Med Rep
Yin L, Chen X, Ji H, Gao S.
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

ICMT supports BRAF^V600E-driven tumor growth by membrane targeting of the CAAX protein INPP5E. [PDF]

Proc Natl Acad Sci U S A
Yang X, Qiao X, Schmidt S, Eklund EA, Ebner-Walter C, Ivarsson E, Crespo MA, Kersemakers N, Dzanan JJ, Thorisson B, Lundgren C, Lim HC, Shkoukani S, Tüksammel E, Xu X, Sayin VI, Martín-Fontecha M, Ortega-Gutiérrez S, Dalin M, Bergo MO.   +19 more
europepmc   +1 more source

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source