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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Am J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFModulation of the peak velocities and gains of abduction and adduction saccades according to head position.
Jpn J Ophthalmol
January 2025
Department of Neurology, Yokohama Brain and Spine Center, Yokohama, Japan.
Purpose: To assess the effects of modifying head position and of static ocular counter-rolling (OCR) on abduction and adduction in saccadic eye movements using a head-mounted video-oculographic device.
Study Design: A clinical observational study.
Methods: The peak velocities and amplitude gains of visually guided 12° saccades were binocularly measured in 21 healthy volunteers with their heads in the upright vertical (0°) and horizontal (± 90°, bilateral side-lying) postures, and in 6 participants with their head positions bilaterally tilted by 30°.
Clinical Manifestations.
Alzheimers Dement
December 2024
Koc University, Department Biology and Genetics, Istanbul, Turkey.
Background: Valosin Containing Protein (VCP) mutations are responsible some genetic etiologies of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Method: A 67-year-old, male patient, applied to the clinic due to behavioral changes and difficulty swallowing. According the patient history it was reported that his first complaint started 6 years ago (at the age of 61).
Comparison of Botulinum Toxin A Injection and Bridge Faden Operation Performed With Bimedial Rectus Recession in Patients With Large-Angle Esotropia.
J Pediatr Ophthalmol Strabismus
December 2024
Purpose: To compare the results of botulinum toxin A injection and bridge Faden operation performed with bimedial rectus recession in the treatment of large-angle esotropia.
Methods: The medical charts of patients with large-angle esotropia who underwent bimedial rectus recession combined with the Faden operation or botulinum toxin A injection between January 2018 and March 2022 were retrospectively screened. The degree of deviations measured before surgery and at 1, 3, 6, and 12 months after surgery were compared between the two groups.
Lower Cranial Nerves in the Neck: An Anatomical Study.
Cureus
December 2024
Otorhinolaryngology Department, Unidade Local de Saúde de São João, Porto, PRT.
Objectives The aim of this anatomical study was to analyze distances and anatomical relations between the lower cranial nerves and important neck landmarks. Methods Anatomical study based on neck dissection in Thiel-embalmed cadavers. Anatomical relations and distances between the vagus (X), accessory (XI), and hypoglossal (XII) nerves and important neck landmarks were registered and compared.
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