Results 81 to 90 of about 519 (150)

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

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Synthesis and biological evaluation of heteroarylnitrile derivatives for motile ciliogenesis

Results in Chemistry
Motile cilia play a critical role in maintaining tissue homeostasis by driving fluid movement and clearing inhaled particles or pathogens. Dysfunction of these organelles underlies a range of ciliopathies, most notably affecting the respiratory system ...
Gwi Bin Lee, Gopalakrishnan Chandrasekaran, Da Bin Jeon, Chan-Young Park, Parvathi Varier Sundareswaran, Byeong Wook Choi, Pyeongkeun Kim, Jihyeon Yoon, Seok-Yong Choi, Jin Hee Ahn   +9 more
doaj   +1 more source

Discovery of a Vertebrate-Specific Factor that Processes Flagellar Glycolytic Enolase during Motile Ciliogenesis

iScience, 2020
Summary: Motile cilia and flagella require ATP for their formation and function. Although glycolytic enzymes are components of flagellar proteomes, how they translocate to flagella is unknown.
Keishi Narita, Hiroaki Nagatomo, Hiroko Kozuka-Hata, Masaaki Oyama, Sen Takeda   +4 more
doaj   +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

The ciliary neurotrophic factor induces Stat3 phosphorylation in distinctive cytotypes of organs involved in body metabolism: An immunohistochemical study

Journal of Anatomy, EarlyView.
p‐STAT3‐positive cells in metabolically relevant peripheral organs and tissues from mice administered with recombinant CNTF (0.3 mg/kg). Abstract Administration of ciliary neurotrophic factor (CNTF) reduces food intake and body weight in both humans and experimental animals, where it also ameliorates hyperglycemia, hyperinsulinemia, and dyslipidemia ...
Chiara Galli, Georgia Colleluori, Jessica Perugini, Edoardo Scopini, Ilenia Severi, Gaia Grandin, Antonio Giordano   +6 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Periodontitis and Diabetes: Mechanistic Evidence of a Circular Relationship

Journal of Periodontal Research, EarlyView.
This narrative review aimed to explore the underlying mechanisms that connect periodontitis to diabetes (and vice versa) and that influence disease susceptibility, progression and response to treatment. ABSTRACT The circular relationship between periodontitis and diabetes mellitus is one of the most established oral‐systemic links.
Philip M. Preshaw, Ren Jie Jacob Chew, Charlene Enhui Goh, Ali A. Abdulkareem, Dana T. Graves   +4 more
wiley   +1 more source

The cold case of state transition 7 (stt7) mutants of Chlamydomonas reinhardtii, solved by whole‐genome sequencing

New Phytologist, EarlyView.
Long‐read whole‐genome sequencing revealed extensive chromosomal rearrangements and aneuploidy in a widely used Chlamydomonas reinhardtii stt7‐1 mutant. The STT7 gene (shown in red) was found to be split between two rearranged chromosomes, providing a molecular explanation for the long‐standing failure of this mutant in genetic crosses.
Sandrine Bujaldon, Adrien Burlacot, Frédéric Chaux, Francis‐André Wollman   +3 more
wiley   +1 more source

TMEM16A chloride channels in the female reproductive tract and their role in normal and dysfunctional pregnancy and labour

The Journal of Physiology, EarlyView.
Abstract figure legend TMEM16A plays a pivotal role in setting the duration of the action potential plateau in human uterine smooth muscle. An increase in TMEM16A expression in labour underpins a lengthening of the plateau and this provides time for the contraction to become larger and longer, important for timely successful labour.
Helena C. Parkington, Harold A. Coleman, Penelope M. Sheehan, Shaun P. Brennecke, Marianne Tare   +4 more
wiley   +1 more source