Results 91 to 100 of about 11,932 (230)

Primary Cilia and Their Role in Acquired Heart Disease

Cells, 2022
Primary cilia are non-motile plasma membrane extrusions that display a variety of receptors and mechanosensors. Loss of function results in ciliopathies, which have been strongly linked with congenital heart disease, as well as abnormal development and ...
Zachariah E. Hale, Junichi Sadoshima
doaj   +1 more source

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P, Coussa, R G, Faingold, R, Fu, Q, Gee, H‐y, Hildebrandt, F, Keser, V, Khan, A, Koenekoop, R K, Lopez, I, Majewski, J, Otto, E A, Ren, H, Schwartzentruber, J   +13 more
core   +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

Whole Genome Sequence Analysis of Weight Loss in 16 972 Participants With COPD Reveals Novel Risk Loci in DRAIC and RFX3

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.
ABSTRACT Background Chronic obstructive pulmonary disease (COPD) is associated with musculoskeletal comorbidities, including cachexia. Weight loss (WL) is the major criterion for cachexia and increases risk for mortality in COPD. Risk factors for WL in COPD are incompletely understood.
Joe W. Chiles III, Alison Rocco, Vinodh Srinivasasainagendra, Harry B. Rossiter, Richard Casaburi, Anna Thalacker‐Mercer, J. Michael Wells, Emily S. Wan, Edwin K. Silverman, Michael H. Cho, Craig P. Hersh, Bruce M. Psaty, Sina A. Gharib, Yan Gao, George T. O'Connor, Leslie A. Lange, Stephen S. Rich, Ani W. Manichaikul, R. Graham Barr, Victor E. Ortega, Deborah A. Meyers, Albert V. Smith, Hemant K. Tiwari, Merry‐Lynn N. McDonald   +23 more
wiley   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, Volume 99, Issue 5, Page 1277-1286, May 2026.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton [PDF]

, 2013
Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector proteins, some of which also play essential roles in ciliogenesis, highlighting the long-standing ...
Adam V. Kwiatkowski, AJ Ross, B Schermer, Bishwanath Chatterjee, C Cui, C Jones, C Jones, C Stuckenholz, CB Kimmel, CD Nobes, Cecilia W. Lo, Chandrakala Puligilla, Cheng Cui, CJ Haycraft, CU Stirnimann, CW Sipe, D Huangfu, D Huangfu, D Yelon, Deanne Francis, E Joo, EK Vladar, Elias T. Spiliotis, F Hildebrandt, GJ Pazour, Gregory J. Pazour, Hisato Yagi, HM Phillips, HM Phillips, I Drummond, J Magdalena, J Wang, J Wang, JB Wallingford, JB Wallingford, JL Badano, Jovenal T. San Agustin, K Schmidt, K Takemaru, KC Corbit, KC Corbit, Lisa M. Swanhart, M Castori, M Fliegauf, M Kelly, M Kinoshita, M Montcouquiol, M Simons, Matthew P. Scott, Matthew W. Kelley, Neil A. Hukriede, Q Hu, Q Yu, Qing Yu, R Rohatgi, RA Meseroll, Richard J. Francis, RJ Francis, Rocky Tuan, S Collier, S Maretto, S Saburi, SD Weatherbee, SK Kim, Subramaniam Sanker, T Caspary, T Kudoh, Tania Chatterjee, Terry Tansey, Thomas P. Lozito, TJ Park, X Wen, Xiaoqin Liu, Y Wang, Zhen Zhang   +74 more
core   +4 more sources