Results 101 to 110 of about 25,996 (285)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

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

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A Pain in my Neck

BioéthiqueOnline, 2015
I have dwarfism and blog mainly about disability related issues. This work illustrates a real physical pain, often invisible to others.
Verpaelst, Frank
doaj  

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source

Adipose‐derived mesenchymal stem cell injection into the KI10 acupoint mitigates cartilage damage in KOA rats through PGE2‐mediated α7nAChR/NF‐κB pathway

Animal Models and Experimental Medicine, EarlyView.
In our research, KOA rat models were established and treated with ADSC injection into the KI10 acupoint. Pain relief, behavioral function, and joint structural improvements were systematically assessed using ethological tests, imaging, histopathological staining, transmission electron microscopy, and molecular analyses.
Mengwei Dong, Wenfang Li, Wanpeng Yang, Te Ba, Nan Nan, Yang Liu, Jing Han, Huiqin Hao   +7 more
wiley   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Construction and reliability and validity test of health literacy assessment scale for children with dwarfism

Huli yanjiu
ObjectiveTo construct a health literacy assessment scale for children with dwarfism and test its reliability and validity, so as to provide a basis for medical staff to measure the health literacy of children with dwarfism.MethodsBased on a review of the
WANG Yongxia, LUO Wen, LIAO Yuexia, CHEN Yuying   +3 more
doaj  

Acromesomelic dwarfism: report of a family with two affected siblings [PDF]

, 1997
Acromesomelic dwarfism is a skeletal dysplasia characterized by disproportionate short stature with predominant involvement of the forearms and hands. Maroteaux et al.{l) first described this form of dwarfism.
Danda, S., Phadke, S. R., Agarwal, S. S.
core  

Real‐time monitoring of root dielectric properties for assessing crop plant damage caused by foliar application of glyphosate

Applications in Plant Sciences, EarlyView.
Abstract Premise There is a knowledge gap regarding how foliar injury and restricted water uptake can be detected by measuring root dielectric response. This pot study nondestructively evaluated the efficiency of real‐time dielectric measurement to monitor the effects of glyphosate spraying.
Imre Cseresnyés, Anna Füzy, Tünde Takács   +2 more
wiley   +1 more source