Search Results - "Pennekamp, Petra"
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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility
Published in PLoS genetics (01-02-2021)“…Axonemal protein complexes, such as outer (ODA) and inner (IDA) dynein arms, are responsible for the generation and regulation of flagellar and ciliary…”
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2
Cilia at the Node of Mouse Embryos Sense Fluid Flow for Left-Right Determination via Pkd2
Published in Science (American Association for the Advancement of Science) (12-10-2012)“…Unidirectional fluid flow plays an essential role in the breaking of left-right (L-R) symmetry in mouse embryos, but it has remained unclear how the flow is…”
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3
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
Published in Molecular human reproduction (27-02-2021)“…Motile cilia line the efferent ducts of the mammalian male reproductive tract. Several recent mouse studies have demonstrated that a reduced generation of…”
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Published in American journal of human genetics (06-12-2018)“…Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of…”
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5
Autophagy Induces Prosenescent Changes in Proximal Tubular S3 Segments
Published in Journal of the American Society of Nephrology (01-06-2016)“…Evidence suggests that autophagy promotes the development of cellular senescence. Because cellular senescence contributes to renal aging and promotes the…”
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6
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
Published in The European respiratory journal (01-12-2014)“…Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of…”
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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
Published in American journal of respiratory cell and molecular biology (01-03-2020)“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal nitric oxide…”
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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
Published in Nature genetics (01-03-2013)“…Heymut Omran, Mary Porter and colleagues identify the nexin link–dynein regulatory complex subunit DRC1 from Chlamydomonas and show that mutations in the human…”
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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
Published in Nature communications (02-11-2020)“…Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate…”
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Published in American journal of human genetics (01-10-2015)“…Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders…”
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Published in American journal of respiratory cell and molecular biology (01-08-2016)“…Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance…”
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Ciliary function and motor protein composition of human fallopian tubes
Published in Human reproduction (Oxford) (01-12-2015)“…STUDY QUESTION What is the motor protein composition and function of human fallopian tube (FT) cilia? SUMMARY ANSWER Although the motor protein composition and…”
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Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population
Published in Frontiers in genetics (10-07-2024)“…Primary ciliary dyskinesia (PCD) is caused by the dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. This study aimed to…”
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Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
Published in Frontiers in genetics (10-10-2022)“…Introduction: Primary ciliary dyskinesia (PCD) is caused by dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. The…”
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15
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
Published in PLoS genetics (27-08-2018)“…The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart…”
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Situs inversus and ciliary abnormalities: 20 years later, what is the connection?
Published in Cilia (London) (14-01-2015)“…Heterotaxy (also known as situs ambiguous) and situs inversus totalis describe disorders of laterality in which internal organs do not display their typical…”
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Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome
Published in Clinical journal of the American Society of Nephrology (01-11-2010)“…Mutations in podocyte genes are associated with steroid-resistant nephrotic syndrome (SRNS), mostly affecting younger age groups. To date, it is unclear…”
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The ion channel polycystin-2 is required for left-right axis determination in mice
Published in Current biology (04-06-2002)“…Generation of laterality depends on a pathway which involves the asymmetrically expressed genes nodal, Ebaf, Leftb, and Pitx2. In mouse, node monocilia are…”
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Registries and collaborative studies for primary ciliary dyskinesia in Europe
Published in ERJ open research (01-04-2020)“…Primary ciliary dyskinesia (PCD) is a rare inherited disease characterised by malfunctioning cilia leading to a heterogeneous clinical phenotype with many…”
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Focal Adhesion Kinase Signaling Mediates Acute Renal Injury Induced by Ischemia/Reperfusion
Published in The American journal of pathology (01-12-2011)“…Renal ischemia/reperfusion (I/R) injury is associated with cell matrix and focal adhesion remodeling. Focal adhesion kinase (FAK) is a nonreceptor protein…”
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