[HTML][HTML] Situs inversus and ciliary abnormalities: 20 years later, what is the connection?

P Pennekamp, T Menchen, B Dworniczak, H Hamada - Cilia, 2015 - Springer
Heterotaxy (also known as situs ambiguous) and situs inversus totalis describe disorders of
laterality in which internal organs do not display their typical pattern of asymmetry. First …

[HTML][HTML] The ion channel polycystin-2 is required for left-right axis determination in mice

P Pennekamp, C Karcher, A Fischer, A Schweickert… - Current Biology, 2002 - cell.com
Generation of laterality depends on a pathway which involves the asymmetrically expressed
genes nodal, Ebaf, Leftb, and Pitx2[1–3]. In mouse, node monocilia are required upstream …

Lower limb reconstruction in tumor patients using modular silver-coated megaprostheses with regard to perimegaprosthetic joint infection: a case series, including 100 …

…, S Koob, P Schepers, PH Pennekamp… - Archives of orthopaedic …, 2017 - Springer
Purpose and objective Bone resection regarding adequate surgical margins is the treatment
of choice for malignant bone tumors. In the case of metastasis-related complications, so-…

Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2

…, J Nakai, B Dworniczak, BE Ehrlich, P Pennekamp… - Science, 2012 - science.org
Unidirectional fluid flow plays an essential role in the breaking of left-right (LR) symmetry in
mouse embryos, but it has remained unclear how the flow is sensed by the embryo. We …

DYX1C1 is required for axonemal dynein assembly and ciliary motility

…, H Olbrich, C Werner, J Raidt, P Pennekamp… - Nature …, 2013 - nature.com
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

…, R Bower, WS Sale, NT Loges, P Pennekamp… - Nature …, 2013 - nature.com
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and
sperm flagella and random determination of visceral asymmetry. Here, we identify the DRC1 …

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

…, B Dworniczak, P Pennekamp… - Clinical Journal of the …, 2010 - journals.lww.com
… in patients without mutations compared with patients with genetic disease (P = 0.02) (Figure
3). … a mutation in podocyte genes show a slower progression to ESRD over time (P = 0.02). …

[PDF][PDF] ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

…, LC Morgan, C Werner, J Raidt, P Pennekamp… - The American Journal of …, 2013 - cell.com
… and ZMYND10, we found that the five truncating protein alterations (p.Gln188*, … and p.Thr237Lysfs*7)
abrogated interaction with DVL3 but that the most distal truncating alteration (p.…

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

…, DA Al-Mutairi, CT Chen, NT Loges, P Pennekamp… - Nature …, 2014 - nature.com
… 716A>G, p.His239Arg) affecting a highly conserved amino acid residue in one individual (…
The P value shown is based on a two-paired t-test. Error bars in c and f are the sd …

[PDF][PDF] CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

…, GC Gabriel, KL Lemke, Y Li, P Pennekamp… - The American Journal of …, 2014 - cell.com
A diverse family of cytoskeletal dynein motors powers various cellular transport systems,
including axonemal dyneins generating the force for ciliary and flagellar beating essential to …