Results 141 to 150 of about 207,744 (307)
Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder
Clinical Case Reports, 2022 Aayush Adhikari +7 more
doaj +1 more source
HYPERTENSION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
Turkish Journal of Nephrology, 2019 -
Züleyha AKKAN, Tevfık ECDER
doaj
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
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Cadasil em uma família catarinense: relato de caso e revisão da literatura. [PDF]
, 2001 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Dach, Fabíola
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Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Developmental Dynamics, EarlyView.Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
CALCIUM HOMEOSTASIS AND POLYCYSTIN-2 EXPRESSION IN T-LYMPHOBLASTS OF PKD SUBJECTS
, 2009 Mutations of polycystin-1 (PC1) and polycystin-2 (PC2), coded by PKD1 and PKD2 genes, account for approximately 85 and 15% of Autosomal Dominant Polycystic Kidney Disease (ADPKD) cases, a common and important inherited kidney disorder.
Durante, Chiara
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Caenorhabditis elegans as an Experimental Model Organism to Study Parkinson's Disease-Related Genes [PDF]
, 2005 Parkinson’s disease (PD) is the second most common neurodegenerative disorder, mainly characterized by motor dysfunctions resulting from massive and selective loss of dopaminergic neurons. Mutations in the human parkin gene, which encodes an E3 ubiquitin
Springer, Wolfdieter
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Epilepsia, EarlyView.Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing +4 more
wiley +1 more source
, 2013 Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska +3 more
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