Results 61 to 70 of about 4,861,001 (122)

Adverse Events of Saffron (Crocus sativus L.): Systematic Review of Current Evidence

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Crocus sativus L., commonly known as saffron, is a widely used spice with a rich history of culinary and medicinal applications. This systematic review aims to compile human data from studies on monopreparations of C. sativus, including stigma powder and other extracts, to evaluate their safety.
Fatemeh Sadat Hasheminasab, Mahdie Hajimonfarednejad, Seyede Maryam Najibi, Mohammad Hashem Hashempur   +3 more
wiley   +1 more source

Identification of novel interacting partners of the pre-mRNA processing factor 31 [PDF]

, 2010
Mutations in PRPF31 (RP11 locus) cause autosomal dominant retinitis pigmentosa (adRP), an inherited disorder of the retina characterised by degeneration of rod photoreceptors. PRPF31 is ubiquitously expressed and encodes a splicing factor involved in the
Fiocco, F.
core  

Exploring Stem-Cell-Based Therapies for Retinal Regeneration

Life
The escalating prevalence of retinal diseases—notably, age-related macular degeneration and hereditary retinal disorders—poses an intimidating challenge to ophthalmic medicine, often culminating in irreversible vision loss. Current treatments are limited
Madalina Radu, Daniel Constantin Brănișteanu, Ruxandra Angela Pirvulescu, Otilia Maria Dumitrescu, Mihai Alexandru Ionescu, Mihail Zemba   +5 more
doaj   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Relative frequency of inherited retinal dystrophies in Brazil

Scientific Reports, 2018
Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246
Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum   +4 more
doaj   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Stargardt's Disease (Fundus Flavimaculatus)

, 2015
Background: Stargardt's Disease is included in the group of degenerative macular diseases, which consists of the progressive loss of cones in fovea of both eyes, leading to variable levels of central vision loss.
Grezda, A. (Arjeta), Boçi, B. (Besim), Simaku, E. (Ermal)   +2 more
core  

PBN (Phenyl-N-Tert-Butylnitrone)-Derivatives Are Effective in Slowing the Visual Cycle and Rhodopsin Regeneration and in Protecting the Retina from Light-Induced Damage.

PLoS ONE, 2015
A2E and related toxic molecules are part of lipofuscin found in the retinal pigment epithelial (RPE) cells in eyes affected by Stargardt's disease, age-related macular degeneration (AMD), and other retinal degenerations.
Megan Stiles, Gennadiy P Moiseyev, Madeline L Budda, Annette Linens, Richard S Brush, Hui Qi, Gary L White, Roman F Wolf, Jian-Xing Ma, Robert Floyd, Robert E Anderson, Nawajes A Mandal   +11 more
doaj   +1 more source

Long‐term predictive outcomes of stem cell therapy for degenerative retinal diseases

Eye & ENT Research
Background Stem cell transplantation is a promising therapy for degenerative retinal diseases, including age‐related macular degeneration (AMD), retinitis pigmentosa (RP), and Stargardt's disease (STGD).
Hai‐Long He, Xuan‐Yu Chen, Ming‐Xia Du, Yi‐Hui Li, Yi‐Han Wang, Zi‐Bing Jin   +5 more
doaj   +1 more source

Clinical presentation of Crohn's disease. Association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery [PDF]

, 2005
Background/Aims: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in Crohn's disease (CD). It was also suggested that familial inflammatory bowel disease (IBD) is a homogenous subgroup, phenotypically ...
Gasztonyi, Beáta, Kovács, Attila, Figler, Mária, Szalay, Ferenc, Cseh, J., Mikó, Éva, Horváth, Gábor, Szekeres Barthó, J., Papp, János, Lakatos, Péter László, Molnár, Tamás, Kovács, Ágota, Lakatos, Péter, Hunyady, Béla, Tulassay, Zsolt, Kisbenedek, A. G., Lakatos, László   +16 more
core   +2 more sources