Results 101 to 110 of about 16,795 (294)

Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila

eLife, 2019
Cilia and flagella are conserved eukaryotic organelles essential for cellular signaling and motility. Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the transition zone (TZ), a complex structure of the ciliary
Jean-André Lapart, Marco Gottardo, Elisabeth Cortier, Jean-Luc Duteyrat, Céline Augière, Alain Mangé, Julie Jerber, Jérôme Solassol, Jay Gopalakrishnan, Joëlle Thomas, Bénédicte Durand   +10 more
doaj   +1 more source

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan   +4 more
doaj   +1 more source

Usher Syndrome

Audiology Research, 2022
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases.
Alessandro Castiglione, Claes Möller
doaj   +1 more source

Situs Inversus Totalis: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror‐image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy‐related disorders, most notably Primary Ciliary Dyskinesia (PCD).
Xin Du, Ning Wang, Juanjuan Sheng, Yunshan Zhang, Jinfang Gao   +4 more
wiley   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Surgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9‐Year‐Old Female

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Kartagner syndrome is a rare congenital autosomal recessive disorder of ciliary movement, characterized by triad of chronic sinusitis, situs inversus and bronchiectasis leading to recurrent chest and sinuses infections. The primary objectives of this case report is to highlight the presentation of this rare disorder, its surgical challenge ...
Pakeezah Tabasum, Makhdooom Bilawal, Priya Devi, Waseem Sajjad, Ali Raza Brohi, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Educational paper [PDF]

European Journal of Pediatrics, 2011
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies.
openaire   +2 more sources

Insights into centriole geometry revealed by cryotomography of doublet and triplet centrioles. [PDF]

, 2018
Centrioles are cylindrical assemblies comprised of 9 singlet, doublet, or triplet microtubules, essential for the formation of motile and sensory cilia.
Agard, David A, Greenan, Garrett A, Keszthelyi, Bettina, Vale, Ronald D   +3 more
core   +1 more source

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]

, 2016
Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S., Arsenijevic, Y., Balzano, S., Bedoni, N., Blazaki, S.V., Boldt, K., Cisarova, K., Cremers, F.P., Decembrini, S., Di Gioia, S.A., El Zaoui, I., Farinelli, P., Giangreco, B., Khan, M.I., Kjellström, U., Mbefo, M.K., Messina, A., Micheal, S., Moulin, A.P., Nikopoulos, K., Plainis, S., Rivolta, C., Roepman, R., Royer-Bertrand, B., Tsika, C., Tsilimbaris, M.K., Ueffing, M.   +26 more
core   +2 more sources

Hedgehog Signal and Genetic Disorders

Frontiers in Genetics, 2019
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and ...
Noriaki Sasai, Michinori Toriyama, Michinori Toriyama, Toru Kondo   +3 more
doaj   +1 more source