Results 41 to 50 of about 1,751 (156)
Situs Inversus Totalis: A Case Report and Literature Review
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 +4 more
wiley +1 more source
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 +5 more
wiley +1 more source
The absence of both RIBC1 and RIBC2 induces decreased sperm motility and litter size in male mice
Abstract Background RIBC1 (RIB43A domain with coiled‐coils 1) and RIBC2 (RIB43A domain with coiled‐coils 2) are homolog proteins of RIB43a which is localized to microtubules in the cilia and flagella of unicellular organisms. Cryo‐electron microscopy and artificial intelligence studies showed that RIBC1 and RIBC2 are microtubule inner proteins (MIPs ...
Kento Katsuma +7 more
wiley +1 more source
What's new? Colorectal cancer (CRC) frequently metastasizes to the liver, either synchronously with primary diagnosis or metachronously, after variable time intervals. Although implicated, the role of genetic factors in driving synchronous and metachronous disease progression remains uncertain.
Marie Rajtmajerova +16 more
wiley +1 more source
ABSTRACT Purpose Mammalian sperm require a large amount of ATP to sustain motility. While glycolysis and oxidative phosphorylation (OXPHOS) are established ATP sources, they cannot fully explain motility maintenance under glucose‐deprived conditions.
Kosei Oishi +9 more
wiley +1 more source
Axonemal dynein assembly requires the R2TP complex component Pontin [PDF]
Pontin (Ruvbl1) and Reptin (Ruvbl2) are closely related AAA ATPases. They are components of the Ruvbl1-Ruvbl2-Tah1-Pih1 (R2TP) complexes that function as co-chaperones for the assembly of multiple macromolecular protein complexes. Here, we show that Pontin is essential for cilia motility in both zebrafish and mouse and that Pontin and Reptin function ...
Yuanyuan Li +4 more
openaire +2 more sources
Primary ciliary dyskinesia (PCD) is a rare and heterogeneous inherited disease characterized by impaired mucociliary clearance. Patients with PCD typically present with recurrent respiratory infections resulting in the development of bronchiectasis. Even though awareness of the disease has increased over the years, PCD remains underdiagnosed.
Mirja M. Wirtz +6 more
wiley +1 more source
We report the case of a 29‐year‐old male diagnosed with primary ciliary dyskinesia (PCD) with a homozygous loss‐of‐function deletion involving exons 1–4 of DRC1. A high‐speed video microscopy analysis showed motile cilia with reduced amplitude, and immunofluorescence (IF) showed the absence of DRC3 in the cilia, suggesting a DRC1 deletion affects DRC3 ...
Atsushi Kurokawa +13 more
wiley +1 more source
The quantitative proteomic and phosphoproteomic profiling reveals dynamic phosphorylation regulation of sperm morphogenesis. Kinase‐substrate phosphorylation network and phosphorylation module analysis, followed by in vivo knockdown and knockout analysis, identify TTBK2 and CSNK1G1 as key regulators of morphogenesis, including head, flagellar, and ...
Tianyu Zhu +25 more
wiley +1 more source
ABSTRACT Incidental situs inversus totalis (SIT) requires thorough anatomical mapping to exclude associated syndromes (e.g., Kartagener) and congenital anomalies. Early identification, patient education on mirrored anatomy, and multidisciplinary coordination are essential to prevent iatrogenic errors during future interventions, even in asymptomatic ...
Ragasa Getachew Bayisa +5 more
wiley +1 more source

