Results 201 to 210 of about 7,051 (240)

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Using Runs of Homozygosity and Machine Learning to Disentangle Sources of Inbreeding and Infer Self-Fertilization Rates. [PDF]

Genome Biol Evol
Zeitler L, Gilbert KJ.
europepmc   +2 more sources

Runs of homozygosity analysis for selection signatures in the Yellow Korean native chicken. [PDF]

Anim Biosci
Kim J, Macharia JK, Kim M, Heo JM, Yu M, Choo HJ, Lee JH.   +6 more
europepmc   +1 more source

Learning Across the Divide: Understanding Knowledge Sharing Through Petrographic Analysis on Ceramics From the Rhine‐Meuse Delta During the Middle to Late Neolithic Transition (3400–2200 bce)

Archaeometry, EarlyView.
ABSTRACT Vlaardingen (VL) communities on the Dutch West coast (3400–2200 bce) are part of a unique, long‐term continuity in the European Neolithic. Despite large‐scale changes in European populations during the Neolithic, the genomic diversity and cultural practices of VL communities can be retraced to the Mesolithic.
Jisca de Bruin, Erik Kroon, Lasse van den Dikkenberg, Dennis Braekmans   +3 more
wiley   +1 more source

Insights into the genomic homogeneity of Moroccan indigenous sheep breeds though the lens of runs of homozygosity. [PDF]

Sci Rep
Kusza S, Badaoui B, Wanjala G.
europepmc   +1 more source

Targeting nuclear export and Janus Kinase/Signal Transducer and Activator of Transcription (JAK/STAT) signalling in myelofibrosis: A novel combinatorial strategy that impacts intrinsic and microenvironment‐related pathways

British Journal of Haematology, EarlyView.
Selinexor targets molecular pathways critical to myelofibrosis (MF) progenitor cell fitness and demonstrates complementary activity with ruxolitinib, supporting its potential as a novel disease‐modifying therapeutic strategy for MF. Summary Myelofibrosis (MF) is a chronic myeloproliferative neoplasm (MPN) characterized by splenomegaly, constitutional ...
Trinayan Kashyap, Andrea A. Ellero, Christopher J. Walker, Marie E. Maloof, Min Lu, Lijuan Xia, Ronald Hoffman, Pietro Taverna   +7 more
wiley   +1 more source

Genetic Diversity, Runs of Homozygosity, and Selection Signatures in Native Japanese Chickens: Insights from Single-Nucleotide Polymorphisms. [PDF]

Animals (Basel)
Velasco VV, Tsudzuki M, Hashimoto N, Goto N, Ishikawa A.   +4 more
europepmc   +1 more source

Methaemoglobinaemia: From pathophysiology to contemporary clinical management

British Journal of Haematology, EarlyView.
Summary Methaemoglobin (MetHb) is an oxidised form of haemoglobin (Hb) unable to bind oxygen. Raised levels of MetHb reduce the blood's oxygen‐carrying capacity, causing potentially severe hypoxaemia and possible death. The condition arises from three main pathologies: mutations in globin genes causing Haemoglobin‐M, inherited deficiency of the enzyme ...
Alexander J. Twine, David C. Rees
wiley   +1 more source

Characterisation of runs of homozygosity and inbreeding coefficients in the red-brown Korean native chickens. [PDF]

Anim Biosci
Macharia JK, Kim J, Kim M, Cho E, Munyaneza JP, Lee JH.   +5 more
europepmc   +1 more source

Hydroxyurea (hydroxycarbamide) in haemoglobin SC disease: Moving from therapeutic hesitation to evidence‐guided care

British Journal of Haematology, EarlyView.
Girard et al. report a retrospective, single‐centre, real‐world study evaluating hydroxyurea (hydroxycarbamide) use in adults with haemoglobin SC disease in Quebec. Hydroxyurea was associated with reduced vaso‐occlusive crisis composite events, mostly mild adverse events and no observed hyperviscosity‐related complications, while highlighting adherence
Tahereh Setayesh
wiley   +1 more source