Results 51 to 60 of about 9,301 (255)

Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond

eLife, 2023
The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome.
Xiaoyu Tian, Huijie Zhao, Jun Zhou
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies [PDF]

, 2022
Next generation sequencing (NGS) can detect carrier status for rare recessive disorders, informing couples about their reproductive risk. The recent ACMG recommendations support offering NGS-based carrier screening (NGS-CS) in an ethnic and population ...
Bachmann-Gagescu, Ruxandra, Horn, Anselm H C, Joset, Pascal, Kraemer, Dennis, Rauch, Anita, Sticht, Heinrich, Vintschger, Ella   +6 more
core   +1 more source

Medical genetics of ciliopathies

Journal of Pediatric Genetics, 2015
Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
openaire   +5 more sources

Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.

PLoS Genetics, 2016
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and ...
Chen-Jei Hong, Bruce A Hamilton
doaj   +1 more source

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies [PDF]

, 2023
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity.
Antignac, Corinne, Avramescu, Marina, Benmerah, Alexandre, Billot, Katy, Boyer, Olivia, Burgun, Anita, Chen, Xiaoyi, Douillet, Maxime, Filhol, Emilie, Garcelon, Nicolas, Heidet, Laurence, Henry, Charline, INSERM–Necker Hospital NPH collaborative group, Jeanpierre, Cécile, Krug, Pauline, Martin, Yoann, Morinière, Vincent, Petzold, Friederike, Salomon, Remi, Saunier, Sophie, Servais, Aude, Tory, Kalman, Zaidan, Mohamad   +22 more
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Serum metabolomics identified specific lipid compounds which may serve as markers of disease progression in patients with Alström and Bardet-Biedl syndromes

Frontiers in Molecular Biosciences, 2023
Objectives: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are among the so-called ciliopathies and are associated with the development of multiple systemic abnormalities, including early childhood obesity and progressive neurodegeneration ...
Krzysztof Jeziorny, Krzysztof Jeziorny, Karolina Pietrowska, Julia Sieminska, Ewa Zmyslowska-Polakowska, Adam Kretowski, Michal Ciborowski, Agnieszka Zmyslowska   +7 more
doaj   +1 more source

Autosomal recessive polycystic kidney disease: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2009
Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death ...
Stevanović Radmila, Glumac Sofija, Trifunović Jovanka, Međo Biljana, Nastasović Tijana, Marković-Lipkovski Jasmina   +5 more
doaj   +1 more source

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  

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti, AM Fry, AM Waters, Amal Al Hashem, Anas M. Alazami, Anason Halees, Andre Megarbane, Basudha Basu, Brahim Tabarki, C Bergmann, C Knopp, C Wright, CJ Westlake, Clare V. Logan, Colin A. Johnson, DA Parfitt, David A. Parry, Dorota Monies, DU Mick, Eissa Faqeih, F Tissir, Firdous M. Abdulwahab, Fowzan S. Alkuraya, FS Alkuraya, FS Alkuraya, FS Alkuraya, G Wheway, Hadeel Alsharif, Heba Morsy, Hisham Alkuraya, K Szymanska, Karsten Boldt, Katarzyna Szymanska, KB Schou, KL Coene, L Abu-Safieh, L Baala, L Sang, M Toriyama, MA Parisi, Maha Alnemer, Mais Hashem, Marius Ueffing, MG Saudi, MH Farkas, Mohamed Abouelhoda, Mohamed El-Kalioby, Mohammed A. Aldahmesh, Mohammed Al-Owain, Mohammed Zain Seidahmed, MS Zaki, Muneera Al-Husain, Mustafa A. Salih, MV Nachury, Nada Al Tassan, Nada Derar, Neama Meriki, Niema Ibrahim, Nisha Patel, Nour Ewida, P Beales, R Rao Damerla, R Roepman, R Shaheen, Ranad Shaheen, Rawda Sonbul, S Ramsbottom, Saad AlShahwan, Saeed Al Tala, SM Ware, SP Choksi, T Ben‐Omran, Tariq Faquih, TJ Dam van, Y Muto, ZA Abdelhamed   +75 more
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