Results 41 to 50 of about 374,677 (247)

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Frontiers in Cell and Developmental Biology, 2021
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome.
Giulia Ascari, Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Miriam Bauwens, Mattias Van Heetvelde, Mattias Van Heetvelde, Gavin Arno, Gavin Arno, Gavin Arno, Julie Jacob, David Creytens, David Creytens, Jo Van Dorpe, Jo Van Dorpe, Thalia Van Laethem, Thalia Van Laethem, Toon Rosseel, Toon Rosseel, Tim De Pooter, Tim De Pooter, Peter De Rijk, Peter De Rijk, Wouter De Coster, Wouter De Coster, Björn Menten, Björn Menten, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Mojca Strazisar, Mojca Strazisar, Mette Bertelsen, Mette Bertelsen, Lisbeth Tranebjaerg, Lisbeth Tranebjaerg, Elfride De Baere, Elfride De Baere   +40 more
doaj   +1 more source

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Upacicalcet: A Novel Intravenous Calcimimetic Agent for Patients Undergoing Hemodialysis With Secondary Hyperparathyroidism

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Secondary hyperparathyroidism (SHPT) is a common complication in patients receiving maintenance dialysis, driven by calcium and phosphate metabolism disturbances. Calcimimetics are central to the management of SHPT by enhancing calcium‐sensing receptor sensitivity and reducing parathyroid hormone secretion.
Fumihiko Koiwa, Daisuke Honda, Seigo Akari, Tadao Akizawa   +3 more
wiley   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

Assembly and Analysis of the Complete Mitochondrial Genome of Capsella bursa-pastoris

Plants, 2020
Shepherd’s purse (Capsella bursa-pastoris) is a cosmopolitan annual weed and a promising model plant for studying allopolyploidization in the evolution of angiosperms.
Denis O. Omelchenko, Maxim S. Makarenko, Artem S. Kasianov, Mikhail I. Schelkunov, Maria D. Logacheva, Aleksey A. Penin   +5 more
doaj   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Systematic Identification of Determinants for Single-Strand Annealing-Mediated Deletion Formation in Saccharomyces cerevisiae

G3: Genes, Genomes, Genetics, 2017
To ensure genomic integrity, living organisms have evolved diverse molecular processes for sensing and repairing damaged DNA. If improperly repaired, DNA damage can give rise to different types of mutations, an important class of which are genomic ...
Maia Segura-Wang, Megumi Onishi-Seebacher, Adrian M. Stütz, Balca R. Mardin, Jan O. Korbel   +4 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Clinical Utility of Optical Genome Mapping for Improved Cytogenomic Analysis of Gliomas

Biomedicines
A glioma is a solid brain tumor which originates in the brain or brain stem area. The diagnosis of gliomas based on standard-of-care (SOC) techniques includes karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), for ...
Harmanpreet Singh, Nikhil S. Sahajpal, Ashis K. Mondal, Stephanie L. Burke, Jaspreet Farmaha, Ahmet Alptekin, Ashutosh Vashisht, Kimya Jones, Vishakha Vashisht, Ravindra Kolhe   +9 more
doaj   +1 more source