Results 71 to 80 of about 2,222,994 (259)

Cancer-associated mutations in endometriosis reframe a benign disease through molecular oncology. [PDF]

Mol Oncol
This review aims to comprehensively analyse cancer‐associated somatic mutations (CAMs) present in endometriotic lesions, emphasizing their biological roles, spatial distribution and implications for translational applications in medicine. By contextualizing a benign state within a genomic framework, this analysis seeks to establish its value as a ...
Mujacic C, Vitale MC, Siino R, Di Giovanni E, Ferrante Bannera C, Di Marco E, Gottardo A, Russo TDB, Barraco N, Perez A, Gristina V, Galvano A, Badalamenti G, Russo A, Bazan V, Incorvaia L.   +15 more
europepmc   +2 more sources

ABL kinase‐dependent phosphorylation of SH proteins promotes their direct interaction with CRK family SH2 domains

FEBS Letters, EarlyView.
CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens, Brendan W. Chandler, Anna M. Schmoker, Jaye L. Weinert, Charlotte A. Kearns, Warren T. Yacawych, Amila Šemić, Alicia M. Ebert, Bryan A. Ballif   +8 more
wiley   +1 more source

Peanut allergy:effect of environmental peanut exposure in children with filaggrin loss-of-function mutations [PDF]

, 2014
BackgroundFilaggrin (FLG) loss-of-function mutations lead to an impaired skin barrier associated with peanut allergy. Household peanut consumption is associated with peanut allergy, and peanut allergen in household dust correlates with household peanut ...
Makinson, Kerry, Hankinson, Jenny, Brown, Sara, Adnan Custovic, Nicolaos Nicolaou, McLean, W.H. Irwin, Simpson, Angela, Stephens, Alick C, Nicolaou, Nicolaos, Abdel Douiri, Simpson, Angela; id_orcid, Belgrave, Danielle C M, Kerry Makinson, Helen A. Brough, McLean, W. H. Irwin, Stephens, Alick C., Sara Brown, Brough, Helen A., Alick C. Stephens, Penagos, Martin, Turcanu, Victor, Danielle C.M. Belgrave, Lack, Gideon, Victor Turcanu, Custovic, Adnan, Belgrave, Danielle C. M., Martin Penagos, Jenny Hankinson, Gideon Lack, W.H. Irwin McLean, Brough, Helen A.; id_orcid, Belgrave, Danielle C.M., Douiri, Abdel; id_orcid, McLean, W H Irwin, Douiri, Abdel, Brough, Helen A, Angela Simpson   +36 more
core   +1 more source

Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort [PDF]

Exploration of Targeted Anti-tumor Therapy
Aim: Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status.
Renato Mendes Rossi De Lucca, Danielle Barbosa Brotto, Claudia Tarcila Gomes Sares, Kelly Gomes Duarte, Wilson Araujo Silva Junior, Philippe E. Spiess, Shahrokh F. Shariat, Natália Dalsenter Avilez, Caio de Oliveira, Leonardo O. Reis, Rodolfo Borges dos Reis   +10 more
doaj   +1 more source

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

Diagnostic accuracy of the lactate stress test for detecting mitochondrial disorders: Systematic review and meta-analysis

Heliyon
Due to their variable phenotypes, mitochondrial disorders (MDs) can be difficult to diagnose. The absolute load lactate stress test (LSTA) and the relative load lactate stress test (LSTR) have been shown to be useful screening tools for the detection of ...
Sara El Guessabi, Redouane Abouqal, Azeddine Ibrahimi, Ghizlane Zouiri, Fatima Sfifou, Josef Finsterer, Yamna Kriouile   +6 more
doaj   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +1 more source

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia [PDF]

, 2007
Objective Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R).
Hindmarsh, PC, Dattani, MT, Achermann, JC, Metherell, LA, Al-Ali, M, Brain, CE, Alzyoud, M, Clark, AJ, Lin, L, Clark, AJL   +9 more
core   +1 more source

El conjunto habitacional Las Américas, un laboratorio para la edificación de una microsociedad

Alteridades, 2014
En un reciente conjunto habitacional de interés social ubicado en Ecatepec, Estado de México, se observan condiciones de vida y patrones de movilidad e inmovilidad que generan cierto aislamiento de sus residentes, haciendo de éste un territorio de vida ...
Céline Jacquin
doaj  

Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development

Frontiers in Immunology, 2020
Introduction: Complete or near complete absence of the purine nucleoside phosphorylase (PNP) enzyme causes a profound T cell immunodeficiency and neurological abnormalities that are often lethal in infancy and early childhood.
Eyal Grunebaum, Eyal Grunebaum, Nicholas Campbell, Matilde Leon-Ponte, Xiaobai Xu, Hugo Chapdelaine   +5 more
doaj   +1 more source