Results 41 to 50 of about 54,030 (246)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

The regulatory role of microRNAs in common eye diseases: A brief review

Frontiers in Genetics, 2023
MicroRNAs (miRNAs) are highly conserved, small non-coding RNA molecules (∼21 nucleotides) that regulate numerous biological processes, including developmental timing, hematopoiesis, organogenesis, apoptosis, cell differentiation, and proliferation either
Javier A. Benavides-Aguilar, Jonathan I. Morales-Rodríguez, Héctor Ambriz-González, Luis M. Ruiz-Manriquez, Luis M. Ruiz-Manriquez, Antara Banerjee, Surajit Pathak, Asim K. Duttaroy, Sujay Paul   +8 more
doaj   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Validation of a New Test for Measuring the Contrast Sensitivity Function (Optopad-CSF) at Near Vision

Diagnostics
Our purpose is to develop and validate a new iPad-based contrast sensitivity (CS) test for measuring the contrast sensitivity function at near vision (Optopad-CSF).
Dolores de Fez, Celia García, Maria Josefa Luque-Cobija, Kevin J. Mena-Guevara, Paula Daudén, David P. Piñero   +5 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Visual outcomes with a non-diffractive enhanced depth-of-focus IOL in patients with age-related macular degeneration

Frontiers in Medicine
PurposeTo evaluate visual function in eyes with age-related macular degeneration (AMD) implanted with a non-diffractive enhanced depth-of-focus (EDOF) intraocular lens (IOL) after cataract surgery.DesignProspective, observational, non-randomized clinical
Juan Carlos Elvira, Patricia Devesa, Belén Elvira-Giner, Pedro Tañá-Sanz, Paz Orts-Vila, Pedro Tañá-Rivero   +5 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Restoring Glutathione Homeostasis in Glycation-Related Eye Diseases: Mechanistic Insights and Therapeutic Interventions Beyond VEGF Inhibition

Antioxidants
Advanced glycation end-products (AGEs) and oxidative stress are recognized as central contributors to the pathogenesis of age-related or diabetic cataracts, diabetic retinopathy (DR), and age-related macular degeneration (AMD).
Yong Chool Boo
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts [PDF]

International Journal of Ophthalmology, 2016
AIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation.
Feng-Tao Dang, Fa-Yu Yang, Ye-Qin Yang, Xiang-Lian Ge, Ding Chen, Liu Zhang, Xin-Ping Yu, Feng Gu, Yi-Hua Zhu   +8 more
doaj   +1 more source