Results 61 to 70 of about 45,840 (304)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

IMI impact of myopia

, 2021
The global burden of myopia is growing. Myopia affected nearly 30% of the world population in 2020 and this number is expected to rise to 50% by 2050. This review aims to analyze the impact of myopia on individuals and society; summarizing the evidence ...
Frick, KD, Marmamula, S ; https://orcid.org/, Kovai, V, Sankaridurg, P ; https://orcid.org/, Fricke, TR ; https://orcid.org/, Friedman, DS, Keeffe, J, Tahhan, N, Kandel, H, Zou, H, Naduvilath, T ; https://orcid.org/, Resnikoff, S ; https://orcid.org/, Lamoureux, E, Walline, JJ   +13 more
core   +2 more sources

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Long-term Results of Small-incision Lenticule Extraction in High Myopia

, 2016
Objectives: To evaluate two-year results of small-incision lenticule extraction (SMILE) for correction of high myopia. Materials and Methods: Forty-five eyes of 35 patients with mean spherical equivalent (SE) of -7.10±0.95 D who underwent routine SMILE ...
Alper Ağca, Ahmet Demirok, Abdülvahit Demir, Mehmet Özveren, Engin Bilge Özgürhan, Onur Ölçücü, Yusuf Yıldırım, Cengiz Alagöz   +7 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A New Paradigm for Understanding the Rheology and Processability of Poly(p‐Phenylene Terephthalamide) Liquid‐Crystalline Solutions

Journal of Applied Polymer Science, EarlyView.
Kevlar is traditionally modeled as a rigid‐rod polymer, yet rheological behavior deviates from this assumption. The review introduces a novel “twist‐tie” entanglement theory for aramid polymer chains in the nematic liquid crystal state, providing a molecular explanation for deviations from rigid‐rod models. Understanding twist‐tie entanglement dynamics
Emma Egli, Jacob L. Pretko, Christopher W. Seay, Steven R. Lustig   +3 more
wiley   +1 more source

Prevalence of myopia and vision impairment in school students in Eastern China

BMC Ophthalmology, 2020
Background Prevention of myopia has become a public health priority in China. This study is to investigate the prevalence of myopia and vision impairment, and their associated factors in school students in eastern China.
Jianyong Wang, Gui-shuang Ying, Xiaojin Fu, Ronghua Zhang, Jia Meng, Fang Gu, Juanjuan Li   +6 more
doaj   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

The Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source

Challenges in attaining optimal visual outcomes in patients with high myopia

Myopia is most commonly associated with the need for refractive correction, but it carries substantially more serious clinical implications. In the course of high myopia, pathological changes within the eye are considerably more frequent. They may hinder
Ewa Mrukwa-Kominek, Łukasz Kempys
core   +1 more source