Results 1 to 10 of about 79,932 (302)

Monogenic Lupus: A Developing Paradigm of Disease

Frontiers in Immunology, 2018
Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system.
Lourdes Ortiz-Fernández, Amr H Sawalha
exaly   +3 more sources

The Future of Regenerative Medicine: Cell Therapy Using Pluripotent Stem Cells and Acellular Therapies Based on Extracellular Vesicles

Cells, 2021
The rapid progress in the field of stem cell research has laid strong foundations for their use in regenerative medicine applications of injured or diseased tissues.
Margot Jarrige, Elie Frank, Elise Herardot, Sabrina Martineau, Annabelle Darle, Manon Benabides, Sophie Domingues, Olivier Chose, Walter Habeler, Judith Lorant, Christine Baldeschi, Cécile Martinat, Christelle Monville, Lise Morizur, Karim Ben M’Barek   +14 more
doaj   +1 more source

Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic

Frontiers in Genetics, 2021
PurposeCongenital hypopituitarism usually occurs sporadically. In most patients, the etiology remains unknown.MethodsWe studied 13 children with sporadic congenital hypopituitarism. Children with non-endocrine, non-familial idiopathic short stature (NFSS)
Youn Hee Jee, Mariam Gangat, Olga Yeliosof, Adrian G. Temnycky, Selena Vanapruks, Philip Whalen, Evgenia Gourgari, Cortney Bleach, Christine H. Yu, Ian Marshall, Jack A. Yanovski, Kathleen Link, Svetlana Ten, Jeffrey Baron, Sally Radovick   +14 more
doaj   +1 more source

Semi-automated optimized method to isolate CRISPR/Cas9 edited human pluripotent stem cell clones

Stem Cell Research & Therapy, 2023
Background CRISPR/Cas9 editing systems are currently used to generate mutations in a particular gene to mimic a genetic disorder in vitro. Such “disease in a dish” models based on human pluripotent stem cells (hPSCs) offer the opportunity to have access ...
Elie Frank, Michel Cailleret, Constantin Nelep, Pascal Fragner, Jérome Polentes, Elise Herardot, Lina El Kassar, Karine Giraud-Triboult, Christelle Monville, Karim Ben M’Barek   +9 more
doaj   +1 more source

RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features

Frontiers in Immunology, 2022
PurposeReceptor-interacting serine/threonine-protein kinase 1 (RIPK1) is an important regulator of necroptosis and inflammatory responses. We present the clinical features, genetic analysis and immune work-up of two patients with infantile-onset ...
Mutaz Sultan, Mohammad Adawi, Nitzan Kol, Nitzan Kol, Nitzan Kol, Blake McCourt, Blake McCourt, Ihda Adawi, Liran Baram, Liran Baram, Noa Tal, Noa Tal, Lael Werner, Lael Werner, Atar Lev, Atar Lev, Atar Lev, Atar Lev, Scott B. Snapper, Scott B. Snapper, Ortal Barel, Ortal Barel, Ortal Barel, Liza Konnikova, Liza Konnikova, Raz Somech, Raz Somech, Raz Somech, Raz Somech, Dror S. Shouval, Dror S. Shouval   +30 more
doaj   +1 more source

Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies

Biomedicines, 2022
Rare diseases impact up to 400 million individuals globally. Of the thousands of known rare diseases, many are rare neurodevelopmental disorders (RNDDs) impacting children. RNDDs have proven to be difficult to assess epidemiologically for several reasons.
Madelyn A. Gillentine, Tianyun Wang, Evan E. Eichler   +2 more
doaj   +1 more source

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects

Frontiers in Genetics, 2022
Familial hypercholesterolemia (FH) is an inherited disease characterized by reduced efficiency of low-density lipoprotein-cholesterol (LDL-C) removal from the blood and, consequently, an increased risk of life-threatening early cardiovascular ...
Ilhame Diboun, Ilhame Diboun, Yasser Al-Sarraj, Salman M. Toor, Shaban Mohammed, Nadeem Qureshi, Moza S. H. Al Hail, Amin Jayyousi, Jassim Al Suwaidi, Omar M. E. Albagha, Omar M. E. Albagha   +10 more
doaj   +1 more source

Pain in monogenic Parkinson’s disease: a comprehensive review

Frontiers in Neurology, 2023
Pain, a challenging symptom experienced by individuals diagnosed with Parkinson’s disease (PD), still lacks a comprehensive understanding of its underlying pathophysiological mechanisms.
Parisa Alizadeh, Parisa Alizadeh, Cinthia Terroba-Chambi, Beatrice Achen, Veronica Bruno, Veronica Bruno   +5 more
doaj   +1 more source

Monogenic Diabetes Modeling: In Vitro Pancreatic Differentiation From Human Pluripotent Stem Cells Gains Momentum

Frontiers in Endocrinology, 2021
The occurrence of diabetes mellitus is characterized by pancreatic β cell loss and chronic hyperglycemia. While Type 1 and Type 2 diabetes are the most common types, rarer forms involve mutations affecting a single gene.
Juan Ignacio Burgos, Ludovic Vallier, Santiago A. Rodríguez-Seguí   +2 more
doaj   +1 more source

Genetic testing for familial hypercholesterolemia—past, present, and future

Journal of Lipid Research, 2021
In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as the first gene where mutations cause the familial hypercholesterolemia (FH) phenotype.
Marta Futema, Alison Taylor-Beadling, Maggie Williams, Steve E. Humphries   +3 more
doaj   +1 more source