Results 31 to 40 of about 6,697 (138)

A Case Report on Kartagener Syndrome or Primary Ciliary Dyskinesia – A Rare Genetic Disorder of Ciliary Motility

International Journal of Current Microbiology and Applied Sciences
Kartagener syndrome (KS) is a rare genetic disorder of autosomal recessive inheritance which is manifested by the classical triad of bronchiectasis, chronic sinusitis, and situs inversus along with infertility in males and reduced fertility in females due to impaired or defective ciliary movement and comes under the types of primary ciliary dyskinesia (
Tooba Hayat, Mohd Mushfiq, Jamal Azmat
openaire   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

TRAF6 Lactylation in Glycolytic Macrophages Drives NF‐κB Signaling and M1 Polarization During Orthodontic Tooth Movement

Advanced Science, EarlyView.
Schematic diagram showing compressive stress triggers glycolytic reprogramming and lactate accumulation in macrophages. Lactate mediates TRAF6 lactylation at K171/K180 dual sites, which enhances its K63‐linked ubiquitination to activate the NF‑κB pathway and promote M1 polarization. This cascade drives orthodontic tooth movement (OTM) and alveolar bone
Xinyi He, Guodong Zhao, Yun Hu, Wenya Bai, Hao Tan, Shuai Yuan, Sihan Yang, Ye Zhu, Xiaohui Xu, Leilei Zheng   +9 more
wiley   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Primary Ciliary Dyskinesia: Insights from a Portuguese tertiary centre cohort

Pulmonology
Introduction Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder caused by defective ciliary structure and function, leading to chronic respiratory and systemic manifestations.
Sofia Teixeira-Oliveira, Inês Pais-Cunha, Susana S. Lopes, Susana Seixas, Catarina Ferraz, Adelina Amorim, Inês Azevedo   +6 more
doaj   +1 more source

Experimental methods in chemical engineering: Magnetometry

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract Magnetometry is a non‐invasive technique to characterize the behaviour of magnetic materials of which the most common contain Fe, Co, and Ni. Vibrating sample magnetometers (VSMs) vibrate samples at a fixed frequency in a static, homogeneous magnetic field to induce a voltage in pick up coils according to Faraday's law of induction.
Michael Claeys, Dominic De Oliveira, Gregory S. Patience, M. Olga Guerrero‐Pérez   +3 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Stochastic and deterministic processes influencing mountain mire diatom communities across spatial scales

Ecography, EarlyView.
Understanding how deterministic and stochastic processes influence the shape of microorganism community assembly across different spatial scales is essential for disentangling biodiversity patterns. Mires are nutrient‐poor and heterogeneous wetlands that form isolated habitats supporting highly diverse diatom assemblages, particularly in mountainous ...
Fernanda Gonzalez‐ Saldias, Angel Rain‐ Franco, Joan Gomà, Jorge García‐ Girón, Aaron Pérez‐ Haase   +4 more
wiley   +1 more source

Multifaceted Primary Ciliary Dyskinesia—A Case Report

Reports
Background and Clinical Significance: Ciliopathies are a heterogeneous group of diseases caused by damage to the primary cilium. Disorders of ciliary motility can lead to a wide range of clinical manifestations, including infertility, lateralization ...
Dinnar Yahya, Miroslava Benkova-Petrova, Aleksandar Petrov, Mari Hachmeriyan   +3 more
doaj   +1 more source