CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology
Kidney International ReportsIntroduction: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes.
Miriam Zacchia +12 more
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The chicken left right organizer has nonmotile cilia which are lost in a stage‐dependent manner in the talpid3 ciliopathy [PDF]
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene [PDF]
, 2017 Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable.
Abdel-Salam, Ghada +20 more
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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies [PDF]
, 2017 Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, Rana +13 more
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome [PDF]
, 2015 Caroline Alby +29 more
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Developmental disruptions underlying brain abnormalities in ciliopathies [PDF]
, 2015 Jiami Guo +6 more
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TCTEX1D2, a potential link to skeletal ciliopathies [PDF]
, 2015 Saikat Mukhopadhyay
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Evidence for a role of the ciliopathy protein MKS1 in cell polarity [PDF]
, 2015 Mauricette Collado‐Hilly +6 more
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Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy [PDF]
, 2015 Isabelle Perrault +20 more
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