Results 151 to 160 of about 299,585 (267)

A Growth Chart for KBG Syndrome

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Karen J. Low   +6 more
wiley   +1 more source

I Wanted to Be Able to Stand on My Own Two Feet First—Younger Parents Exiting Homelessness and Care and Their Aspirations

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This qualitative study examines the aspirations, motivations and support needs of 15 young parents in South Australia with experiences of out‐of‐home care (OOHC) or homelessness. Most participants aimed to delay parenting to achieve financial stability, education and personal development, but faced unplanned pregnancies due to inadequate ...
Tim Moore, Stewart McDougall
wiley   +1 more source

‘Giving Back to Our Community’: The Retention of the Aboriginal and Torres Strait Islander Disability Workforce in New South Wales, Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Aboriginal and Torres Strait Islander people of Australia require culturally responsive services. The Australian government has committed to establishing strategies to increase the size of the Aboriginal and Torres Strait Islander disability workforce; however, there is scant research on the factors influencing retention.
J. Gwynn   +9 more
wiley   +1 more source

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong   +5 more
wiley   +1 more source

Investigation Into the Dynamics of the Cupula in the Vestibular Organ of Adult Zebrafish Using Metabolic Glycoengineering

open access: yesAngewandte Chemie, EarlyView.
The cupula is a membrane within the vestibular organ that senses rotatory accelerations of the head. Metabolic glycoengineering in combination with bioorthogonal labeling demonstrates that in adult zebrafish – being a model for the human inner ear – this membrane is constantly renewed.
Hans Scherer   +4 more
wiley   +2 more sources

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins   +104 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

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