4 Works

A cross-sectional study of nemaline myopathy supplementary figures

Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H. Beggs, Carsten G. Bönneman, Michael Brudno, Andrei Constantinescu, Johannaz Dastgir, Mamadou Diallo, Casie A. Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal S. Jain, Michael W. Lawlor, Oscar H. Mayer, Leslie Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H. Wang & James J. Dowling
Objective: Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures. Methods: Fifty-seven individuals with NM were recruited at two family workshops, including 16 examined at both time points. Subjects were evaluated by clinical history and physical examination. Functional outcome measures included the Motor Function Measure (MFM), pulmonary function tests...

Supplemental Data: Low bone mineral density in early pubertal transgender/gender diverse youth: Findings from the Trans Youth Care Study

Janet Y. Lee, Courtney Finlayson, Johanna Olson-Kennedy, Robert Garofalo, Yee-Ming Chan, David V. Glidden & Stephen M. Rosenthal
Context. Transgender youth may initiate gonadotropin-releasing hormone agonists (GnRHa) to suppress puberty, a critical period for bone-mass accrual. Low bone mineral density (BMD) has been reported in late-pubertal transgender girls prior to gender-affirming therapy, but little is known about BMD in early-pubertal transgender youth. Objective. To describe BMD in early-pubertal transgender youth. Design. Cross-sectional analysis of the prospective, observational, longitudinal Trans Youth Care Study cohort. Setting. Four multi-disciplinary academic pediatric gender centers in the United...

YAP and TAZ maintain PROX1 expression in the developing lymphatic and lymphovenous valves in response to VEGF-C signaling

Boksik Cha, Yen-Chun Ho, Xin Geng, , Lijuan Chen, Yeunhee Kim, Dongwon Choi, Tae Hoon Kim, Gwendalyn Randolph, Xinwei Cao, Hong Chen & R. Sathish Srinivasan
Lymphatic vasculature is an integral part of digestive, immune and circulatory systems. The homeobox transcription factor PROX1 is necessary for the development of lymphatic vessels, lymphatic valves (LVs) and lymphovenous valves (LVVs). We and others previously reported a feedback loop between PROX1 and Vascular Endothelial Growth Factor-C (VEGF-C) signaling. PROX1 promotes the expression of the VEGF-C receptor VEGFR3 in lymphatic endothelial cells (LECs). In turn, VEGF-C signaling maintains PROX1 expression in LECs. However, the mechanisms...

The STARS phase 2 study: a randomized controlled trial of gaboxadol in Angelman syndrome

Lynne Bird, Cesar Ochoa-Lubinoff, Wen-Hann Tan, Gali Heimer, Raun Melmed, Amit Rakhit, Jeannie Visootsak, Matthew During, Rebecca Burdine, Christina Holcroft, Alexander Kolevzon & Ronald Thibert
Objective: To evaluate safety and tolerability and exploratory efficacy endpoints for gaboxadol (OV101) compared with placebo in individuals with Angelman syndrome (AS). Methods: Gaboxadol is a highly selective orthosteric agonist that activates γ-subunit–containing extrasynaptic γ-aminobutyric acid type A (GABAA) receptors. In a multicenter, double-blind, placebo-controlled, parallel-group trial, adolescent and adult individuals with a molecular diagnosis of AS were randomized (1:1:1) to 1 of 3 dosing regimens for a duration of 12 weeks: placebo morning dose...

Registration Year

  • 2020
    4

Resource Types

  • Dataset
    4

Affiliations

  • Boston Children's Hospital
    4
  • Massachusetts General Hospital
    1
  • Rady Children's Hospital-San Diego
    1
  • Princeton University
    1
  • Medical College of Wisconsin
    1
  • Goryeb Children's Hospital
    1
  • National Institutes of Health
    1
  • Columbia University Medical Center
    1
  • Rush University Medical Center
    1
  • Driscoll Children's Hospital
    1