Results 61 to 70 of about 26,826 (219)
Epigenetics and triplet-repeat neurological diseases [PDF]
, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core +2 more sources
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy
The EuroBiotech Journal, 2023 The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U. +2 more
doaj +1 more source
Life, 2021 Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP.
Mei Nakahara +9 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
A pedigree with myotonic dystrophy: electrophysiological and genetic characteristics
Chinese Journal of Contemporary Neurology and NeurosurgeryObjective To summarize the clinical, electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy (DM). Methods and Results The 25-year-old male proband exhibited an occult onset, characterized by a distinctive "hatchet face ...
HUANG Jing +5 more
doaj +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Clinical Genetics, EarlyView.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction [PDF]
, 2015 Up to 80% of individuals with myotonic dystrophy type 1 (DM1) will develop cardiac abnormalities at some point during the progression of their disease, the most common of which is heart blockage of varying degrees.
Adereth +69 more
core +4 more sources
The FEBS Journal, EarlyView.Plant‐type pentatricopeptide repeat proteins capable of C‐to‐U RNA editing perform faithfully when expressed in a new heterologous system, the yeast Saccharomyces cerevisiae. They were tested with constitutive and inducible expression and with a set of different solubility tags. PPR56, PPR65, and PPR78 from P.
Shyam Ramanathan +4 more
wiley +1 more source