Results 131 to 140 of about 27,643 (268)
Andrology, EarlyView.ABSTRACT Background The tight junction protein CLDN6 has been identified as a cancer‐associated cell surface marker that is rarely expressed in healthy tissues. In testicular germ cell tumors (GCT), CLDN6 is particularly detectable in seminomas, embryonal carcinomas, and choriocarcinomas.
Jule Zwick +7 more
wiley +1 more source
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice [PDF]
, 2014 Loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) causes the progressive neurological disorder Rett syndrome (RTT). Conversely, duplication or triplication of Xq28 causes an equally wide-ranging progressive neurological ...
Heckman, Laura Dean +2 more
core +1 more source
Science Translational Medicine, 2019 KCC2 expression–enhancing small molecules rescue cellular and behavior deficits in human RTT neurons and Mecp2 mutant mice. Restoring balance in Rett syndrome Rett syndrome (RTT) is a neurodevelopmental disorder causing cognitive, motor, and emotional ...
Xin Tang +11 more
semanticscholar +1 more source
British Journal of Pharmacology, EarlyView.Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora +8 more
wiley +1 more source
, 2011 This animation shows how the protein MECP2, in conjuction with another protein complex, can act as an "on-off' switch for gene expression.
Howard Hughes Medical Institute (HHMI)
core
Persistent Expression of Serotonin Receptor 5b Alters Breathing Behavior in Male MeCP2 Knockout Mice
Frontiers in Molecular Neuroscience, 2018 Mutations in the transcription factor methyl-CpG-binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome (RTT). Besides many other neurological problems, RTT patients show irregular breathing with recurrent apneas or breath-holdings.
Steffen Vogelgesang +9 more
doaj +1 more source
Clinical Genetics, EarlyView.Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun +3 more
wiley +1 more source
, 2014 This animation shows how the protein MECP2, in conjuction with another protein complex, can act as an "on-off' switch for gene expression.
Howard Hughes Medical Institute (HHMI)
core
Neurobiology of Disease, 2009 The expression of the methylated DNA-binding protein MeCP2 increases during neuronal development, which suggests that this epigenetic factor is crucial for neuronal terminal differentiation.
Jennifer L. Larimore +5 more
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic overview highlights communication impairment as a defining feature of Rett syndrome, with expressive language consistently affected more severely than receptive language and social ability. Across the literature, most studies rely on caregiver‐reported measures, with relatively few employing direct or objective measurements of speech ...
Lucas N. Raniolo +6 more
wiley +1 more source