Results 61 to 70 of about 12,422 (262)
Stem Cell Research, 2018 Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati +10 more
doaj +1 more source
Using Paramecium as a Model for Ciliopathies [PDF]
Genes, 2021 Paramecium has served as a model organism for the studies of many aspects of genetics and cell biology: non-Mendelian inheritance, genome duplication, genome rearrangements, and exocytosis, to name a few. However, the large number and patterning of cilia that cover its surface have inspired extraordinary ultrastructural work.
Megan Valentine, Judith Van Houten
openaire +3 more sources
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome [PDF]
, 2017 WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood.
Caligioni CS +22 more
core +3 more sources
Ciliopathies A reference for clinicians [PDF]
Clinical Kidney Journal, 2014 This is a multi-author book encompassing 14 chapters on diseases associated with defects in proteins expressed in the primary cilia, a structure long regarded as a useless vestigial organelle. The first chapter covers our current knowledge of the structure and biology of the motile and non-motile (primary) cilia and proposes a clinical diagnosis ...
Patrick Niaudet, Laurence Heidet
openaire +2 more sources
Ciliogenesis and the DNA damage response: A stressful relationship [PDF]
, 2016 Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of ...
Collis, SJ, Johnson, CA
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A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13. [PDF]
Clin Case RepMultiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Yamabe F +4 more
europepmc +2 more sources
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS ONE, 2019 The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies.
Teunis J P van Dam +48 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
Liver Cirrhosis in Woman with Ciliopathy Syndrome
Acta Medica Indonesiana, 2022 Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis.
Syifa Mustika, Dian Hasanah
doaj
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