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Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFVariant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Clin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFThe Role of Antenatal Ultrasound in the Detection of Goldston Syndrome: A Case Report and Review of Literature.
Cureus
October 2024
Department of Radiodiagnosis, Sawai Man Singh (SMS) Medical College, Jaipur, IND.
Goldston syndrome (GS) is an extremely rare syndrome involving the central nervous system and kidneys. It is believed to have a familial association and an autosomal recessive inheritance and is characterized by the concomitant occurrence of cystic dysplastic kidneys and Dandy-Walker malformation. We report a case of antenatally detected GS at 22 weeks of gestation in a female with a consanguineous marriage.
View Article and Find Full Text PDFMeckel-Gruber Syndrome: Prenatal Diagnosis of a Lethal Ciliopathy with Multisystem Anomalies.
J Obstet Gynaecol Can
November 2024
Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Bhopal, India.
New functions of B9D2 in tight junctions and epithelial polarity.
Sci Rep
October 2024
Université Paris-Saclay, Inserm, physiopathogenèse et traitement des maladies du foie, 94800, Villejuif, France.
Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating causes of neuronal and skeletal development disorders, the origins of other ciliopathy-related conditions, such as hepatic fibrocystic diseases, remain elusive. Additionally, attempts to correlate specific ciliary proteins with distinct phenotypes have been largely unsuccessful due to the variable and overlapping symptoms of ciliopathies.
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