Results 331 to 340 of about 1,639,589 (408)

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

Depressive Symptoms in Adults with Autosomal Dominant Polycystic Kidney Disease. [PDF]

Kidney360
Yi CJ, Watnick TT, Seliger SL.
europepmc   +1 more source

Polycystin 2 is increased in disease to protect against stress-induced cell death [PDF]

, 2020
Brill, Allison L., Campbell, Stuart G., Cantley, Lloyd G., Chung, Hee Jung, Ehrlich, Barbara E., Fischer, Tom T., Johnson, Eric K., Marlier, Arnaud, Moeckel, Gilbert, Nerbonne, Jeanne M., Robert, Marie E., Sewanan, Lorenzo R., Walters, Jennifer M., Wilson, Parker C.   +13 more
core   +1 more source

The pathophysiological significance between autosomal dominant polycystic kidney disease and neutrophil gelatinase-associated lipocalin. [PDF]

Kidney Res Clin Pract
Devapatla P, Jeng WY, Chiu WT, Hsieh-Li HM.   +3 more
europepmc   +1 more source

Corneal characteristics in children with Marfan syndrome with or without ectopia lentis

Pediatric Investigation, EarlyView.
Children with Marfan Syndrome who have dislocation of the natural lens of the eye also have abnormalities of eye shape and size. These abnormalities are not apparent in Marfan's children who do not have lens dislocation, implying that the children with lens dislocation have a more severe genetic defect of fibrillin proteins.
Marisa O'Brien, Lawrence Tychsen
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease-Related Multifocal Renal Cell Carcinoma: A Narrative Iconographic Review. [PDF]

Int J Mol Sci
Sergi CM, Guerra L, Hager J.
europepmc   +1 more source

Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double‐blind placebo‐controlled crossover trial

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, EarlyView.
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare, progressive muscle disease with no available disease‐modifying therapy. Creatine monohydrate (CrM) has been shown to improve muscle strength in individuals with muscular dystrophies but has not been tested in young people with FSHD.
Ian R. Woodcock, Katy de Valle, Anita Cairns, Zoe E. Davidson, Michael Kean, Nisha Varma, Anneke Grobler, David Metz, Kate Carroll, Nuran Dilek, Chad Heatwole, Monique M. Ryan, Martin B. Delatycki, Eppie M. Yiu   +13 more
wiley   +1 more source

Targeting TRPM3 as a potential therapeutic approach for autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Gül H, Davies JA.
europepmc   +1 more source

Correction: Investigating the Aβ and tau pathology in autosomal dominant Alzheimer's disease: insights from hybrid PET/MRI and network mapping. [PDF]

Alzheimers Res Ther
Zhou Z, Wang Q, Liu L, Wang Q, Zhang X, Li C, Liu J, Wei Y, Gao J, Fu L, Wang R.   +10 more
europepmc   +1 more source

Plasticity of Gene Expression in Spaceflight and Postflight in Relation to Cardiovascular Disease: Mechanisms and Candidate Repurposed Drugs

PROTEOMICS, EarlyView.
ABSTRACT Spaceflight poses unique challenges to human health due to exposure to increased levels of cosmic radiation, microgravity, and associated oxidative stress. These environmental factors can lead to cellular damage, inflammation, and a range of health complications, including cardiovascular problems, immune system impairment, and an increased ...
Marilena M. Bourdakou, Eleni M. Loizidou, George M. Spyrou   +2 more
wiley   +1 more source