Results 71 to 80 of about 5,242 (197)

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Axonemal Dynein Arms [PDF]

Cold Spring Harbor Perspectives in Biology, 2016
Axonemal dyneins form the inner and outer rows of arms associated with the doublet microtubules of motile cilia. These enzymes convert the chemical energy released from adenosine triphosphate (ATP) hydrolysis into mechanical work by causing the doublets to slide with respect to each other.
openaire   +2 more sources

Huntingtin as an Actin Organizer: Structural and Functional Insights

Cytoskeleton, EarlyView.
M. Capizzi, S. Humbert
wiley   +1 more source

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, EarlyView.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

A liquid-like organelle at the root of motile ciliopathy

eLife, 2018
Motile ciliopathies are characterized by specific defects in cilia beating that result in chronic airway disease, subfertility, ectopic pregnancy, and hydrocephalus.
Ryan L Huizar, Chanjae Lee, Alexander A Boulgakov, Amjad Horani, Fan Tu, Edward M Marcotte, Steven L Brody, John B Wallingford   +7 more
doaj   +1 more source

RNF13 regulates the endolysosomal pathway through interaction with the small GTPase Arl8B

The FEBS Journal, EarlyView.
The E3 ubiquitin ligase RNF13 functions as a regulatory scaffold, organizing Arl8B‐dependent complexes and tuning downstream signaling that controls endolysosomal organization and trafficking. In this model, wild‐type RNF13 associates with Arl8B on endolysosomes, whereas Arl8B (E22D/F55A) or RNF13 (L244A) variants weaken complex assembly, potentially ...
Audrey M. Sénécal, Valérie C. Cabana, Antoine Y. Bouchard, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source

Reconstruction of native cellular microanatomy in a novel bioengineered full thickness human nasal mucosal construct

Journal of Anatomy, EarlyView.
Bioengineered tissue constructs are vital technologies employed in in vitro testing of both fundamental biological principles and industrial screening practices. Current approaches to modelling the nasal mucosa in vitro are not representative and are associated with limitations that impact their reliability and predictive value.
Steven Bradbury, Bethany Dickson, Nicola Curtis, David Bunton, Kirsty Goncalves, Stefan Przyborski   +5 more
wiley   +1 more source

Integrative Phosphoproteomic Profiling Reveals Stage‐Specific Signalling and Metabolism in Equine Melanocytic Neoplasm

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Equine melanocytic neoplasms (EMN) are aggressive tumours characterised by high metastatic potential and limited therapeutic options available. However, the molecular mechanisms underlying their progression remain poorly understood. This study therefore presents the integrative phosphoproteomic analysis of EMN tissue, with the aim of ...
Paitoon Srimontri, Amornthep Kingkaw, Nawarus Prapaiwan, Rangsima Sujittosakul, Nichapat Iamkaewprasert, Jiraschaya Piputwat, Puetta Isama‐al, Thanutchanok Munkongdee, Thanapon Chotikaprakal, Petchpailin Yanyongsirikarn, Narumon Phaonakrop, Sittiruk Roytrakul, Wanwipa Vongsangnak, Parichart Tesena   +13 more
wiley   +1 more source

Dynein catch bond as a mediator of codependent bidirectional cellular transport

Physical Review Research, 2019
Intracellular bidirectional transport of cargo on microtubule filaments is achieved by the collective action of oppositely directed dynein and kinesin motors.
Palka Puri, Nisha Gupta, Sameep Chandel, Supriyo Naskar, Anil Nair, Abhishek Chaudhuri, Mithun K. Mitra, Sudipto Muhuri   +7 more
doaj   +1 more source

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source