Retinoblastoma protein prevents enteric nervous system defects and intestinal pseudo-obstruction. [PDF]
J Clin Invest, 2013 The retinoblastoma 1 (RB1) tumor suppressor is a critical regulator of cell cycle progression and development. To investigate the role of RB1 in neural crest-derived melanocytes, we bred mice with a floxed Rb1 allele with mice expressing Cre from the tyrosinase (Tyr) promoter.
Fu M +6 more
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CFTR-deficient pigs display peripheral nervous system defects at birth. [PDF]
Proc Natl Acad Sci U S A, 2013 Peripheral nervous system abnormalities, including neuropathy, have been reported in people with cystic fibrosis. These abnormalities have largely been attributed to secondary manifestations of the disease. We tested the hypothesis that disruption of the cystic fibrosis transmembrane conductance regulator (
Reznikov LR +11 more
europepmc +6 more sources
Sequoia affects Drosophila central nervous system development by regulating axonal extension and guidance. [PDF]
PLoS ONEThe development of the Drosophila melanogaster central nervous system (CNS) requires both determination of neuronal cell types and the subsequent establishment of neural connectivity. Numerous studies have identified genes and molecules required for both
Noor Al-Hajri +4 more
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Correction: Single-cell multi-omics analysis reveals cellular subpopulations associated with relapse in high-risk B-ALL following intensified chemotherapy [PDF]
Frontiers in ImmunologyLi Liu +12 more
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PATIENTS AT RISC FOR CENTRAL NERVOUS SYSTEM DISEASE [PDF]
Romanian Journal of Pediatrics, 2009 An anomaly of Central Nervous System (CNS) can occur as an isolated defect or as a part of a syndrome. This syndrome can be the result of single genes, a chromosome aberration, or environmentally induced conditions (Bergsna D, 1979; Smith DW, 1982 ...
Valeriu Popescu, Andrei Zamfirescu
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Case Reports in Obstetrics and Gynecology, 2023 Neural tube defects are serious birth defects of the central nervous system that result from a multifaceted disruption of normal embryogenesis of the nervous system. Although largely preventable, they nonetheless pose a serious threat to global morbidity,
Alemayehu Shiferaw Lema +1 more
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Held Up in Traffic—Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease
Frontiers in Molecular Neuroscience, 2021 Charcot-Marie-Tooth disease (CMT), also known as motor and sensory neuropathy, describes a clinically and genetically heterogenous group of disorders affecting the peripheral nervous system.
Ronja Markworth +4 more
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Creatine Defects and Central Nervous System
Seminars in Pediatric Neurology, 2016 Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.
Fons-Estupina C, Campistol-Plana J
openaire +5 more sources
Identification of Neurocan and Phosphacan as Early Biomarkers for Open Neural Tube Defects
Cells, 2023 Open neural tube defects (NTDs) such as myelomeningocele (MMC) are debilitating and the most common congenital defects of the central nervous system. Despite their apparent clinical importance, the existing early prenatal diagnostic options for these ...
Karolina Janik +2 more
doaj +1 more source
Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome
Dermatopathology, 2021 Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem ...
Trinidad Montero-Vilchez +3 more
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