Results 61 to 70 of about 2,693,515 (272)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Synthesis, modification, and chlorhexidine loading of polymer modified-HM-HAP particles: In vivo antibacterial analysis and cell cytotoxicity assessment. [PDF]

Smart Mol
This study presents the synthesis of hollow mesoporous hydroxyapatite (HM‐HAP) particles modified with different weights PEG and PEI. Chlorhexidine was loaded onto the particles. SEM analysis confirmed no significant morphological changes. Antibacterial activity was tested in vitro and in vivo using mouse oral bacteria, demonstrating promising results.
Shafiq F, Liu C, Yu S, Pan Y, Ji M, Shi Q, Qiao W.   +6 more
europepmc   +2 more sources

Study on the Precise Modeling Method of Helical Gear with Deviation and Modification

Jixie chuandong, 2018
According to the forming process principle,the influence of the tooth profile modification,helix modification and tooth profile deviation,helix deviation and eccentricity tolerance of radial run-out of the involute helical gear on tooth profile shape is ...
Yuan Yongchao, Liu Zhongming, Mao Jizhe, Cao Yanjun, Zhang Kun   +4 more
doaj  

Research on thermal characteristics of gear based on parametric tooth profile modification

Advances in Mechanical Engineering
This paper establishes a thermal analysis model for parametric profile modification gears based on the heat transfer mechanisms of gear transmission. The main research parameters are the addendum coefficient and the modification coefficient, focusing on ...
Hengzhe Shi, Wei Li, Wanlin Zhou
doaj   +1 more source

METHOD FOR MODIFYING PROFILE OF CYCLOIDAL WHEEL CONSIDERING COMPENSATION FOR ELASTIC DEFORMATION

Jixie qiangdu, 2020
Considering the influence of elastic deformation on the profile of the cycloid,a cycloid profile modification method for compensating elastic deformation is proposed.Based on the theory of cycloid profile modification,the coordinates of the meshing point
QIN ZhengZheng, WANG Quan, ZHAO DaXing, WANG Jun, ZENG LiLei   +4 more
doaj  

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Two-parameter Envelope Calculation for the Profile of Worm Grinding Wheel and Dressing Method

Jixie chuandong, 2022
A mathematical model for tooth profile curve of cylinder gear with high-order modification gear surface is established. Applying two-parameter envelope theory to determine the meshing relationship between worm grinding wheel and helical gears，the ...
Shuai Wang, Bin Li, Jianjun Yang, Laigui Lei, Jinwei Zhao, Jianxin Su   +5 more
doaj  

Cortical bone distribution in the human mandibular symphysis: Ontogenic and morphometric approaches in archeological context

The Anatomical Record, EarlyView.
Abstract The human mandibular symphysis concentrates multiaxial loads during function and remodels throughout growth, but the precise mechanisms underlying cortical bone shape during growth remain relatively unexplored. Approaches based solely on thickness or external cortical contours provide only partial insights and do not capture the functional ...
Ana Ribeiro, Elsa Garot, Christine Couture, Pierre‐Hadrien Decaup   +3 more
wiley   +1 more source