Results 261 to 270 of about 462,672 (344)

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder. [PDF]

Mol Cytogenet
Cheng X, Xu L, Wu J, Zhang L, Wei X, Min S, Liao Y.   +6 more
europepmc   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Identification of Three Novel <i>MAGED2</i> Variants Causing Antenatal Bartter Syndrome in Three Chinese Families. [PDF]

Genes (Basel)
Yang S, Li X, Jiang H, Cheng J, Li C, Xie X, Xiao X.   +6 more
europepmc   +1 more source

Fine mapping of chromosome 10q deletions and candidate gene analysis in mycosis fungoides and Sezary syndrome.

, 2005
EM Wain
openalex   +1 more source

Genomic mechanisms of resistance to venetoclax in multiple myeloma with t(11;14)(CCND1;IGH).

Blood
Kaddoura M, Wiedmeier-Nutor JE, Gupta VA, Jelinek T, Ziccheddu B, Shivaram S, Tang H, Owens RW, Sevcikova T, Fonseca R, Durante M, Diamond B, Zhao L, Zhu YX, Shi CX, Matulis SM, Mitsiades CS, Landgren O, Usmani S, Hajek R, Chesi M, Bergsagel PL, Braggio E, Boise LH, Fonseca R, Kumar S, Maura F, Baughn LB.   +27 more
europepmc   +1 more source

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants. [PDF]

Genes (Basel)
Młynek M, Wicher D, Cieślikowska A, Urbańska K, Przywoźna-Zduńczyk K, Zawadzka-Więch U, Markowska-Krawczyk K, Bal A, Purwin S, Sielska-Rotblum D, Halat-Wolska P, Iwanowski P, Iwanicka-Pronicka K, Jędrzejowska M, Kowalczyk-Rusak M, Pietrasik J, Chrzanowska K, Domańska-Pakieła D, Kotulska-Jóźwiak K, Krajewska-Walasek M, Madej-Pilarczyk A.   +20 more
europepmc   +1 more source

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source