Results 281 to 290 of about 115,667 (333)

Non‐canonical nitric oxide signalling and DNA methylation: Inflammation induced epigenetic alterations and potential drug targets

British Journal of Pharmacology, EarlyView.
Abstract DNA methylation controls DNA accessibility to transcription factors and other regulatory proteins, thereby affecting gene expression and hence cellular identity and function. As epigenetic modifications control the transcriptome, epigenetic dysfunction is strongly associated with pathological conditions and ageing.
Christopher H. Switzer
wiley   +1 more source

Moving Beyond Hemangioma: Interactive, Multidisciplinary, Case-Based Teaching in Vascular Anomalies for Pediatric Residents. [PDF]

MedEdPORTAL
Mojica AM, Wolfe AD.
europepmc   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Experience with 808-nm diode laser in the treatment of 47 cases of oral vascular anomalies. [PDF]

Braz Oral Res
Heimlich FV, de Arruda JAA, Kato CNAO, Silva LVO, Souza LN, Ferreira MVL, Pinheiro JJV, Silva TA, Abreu LG, Mesquita RA.   +9 more
europepmc   +1 more source

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype

Clinical Genetics, EarlyView.
Accurately diagnosing Beckwith–Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS ...
Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi, Maria Grazia Pomponi, Pietro Chiurazzi, Alessandro Mussa, Giuseppe Zampino, Maurizio Genuardi, Chiara Leoni   +8 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Population pharmacokinetic study in children with vascular anomalies: body weight as a key variable in predicting the initial dose and dosing frequency of sirolimus. [PDF]

Front Pharmacol
Fan L, Guo HL, Zhao YT, Li Y, Wang WJ, Huang J, Hu YH, Zou JJ, Chen F.   +8 more
europepmc   +1 more source