Results 81 to 90 of about 16,529 (304)
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of origin recognition complex factors [PDF]
, 2019 Meier–Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin recognition complex (ORC) consisting of ORC1–6 and the pre-replication complex, which together ...
Casar Tena, Teresa +5 more
core +1 more source
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Human Mutation, 2020 Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual ...
Daniel Epting +29 more
semanticscholar +1 more source
Ciliopathies: The Trafficking Connection [PDF]
Traffic, 2014 The primary cilium (PC) is a very dynamic hair‐like membrane structure that assembles/disassembles in a cell‐cycle‐dependent manner and is present in almost every cell type. Despite being continuous with the plasma membrane, a diffusion barrier located at the ciliary base confers the PC properties of a separate organelle with very specific ...
Kayalvizhi, Madhivanan +1 more
openaire +2 more sources
A family of congenital hepatic fibrosis and atypical retinitis pigmentosa
Clinics and Practice, 2015 Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar +5 more
doaj +1 more source
Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]
, 2016 Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar +44 more
core +2 more sources
Childhood Kidney Diseases, 2015 NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset.
Hee Gyung Kang, Hae Il Cheong
doaj +1 more source
Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
core +3 more sources
Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer
International Journal of Molecular Sciences, 2020 Cilia are antenna-like structures present in many vertebrate cells. These organelles detect extracellular cues, transduce signals into the cell, and play an essential role in ensuring correct cell proliferation, migration, and differentiation in a ...
Takashi Shiromizu +7 more
semanticscholar +1 more source
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]
, 2015 Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Aza-Blac, P +44 more
core +10 more sources
Identification of novel genes regulating the development of the palate
Developmental Dynamics, EarlyView.Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley +1 more source