Results 281 to 290 of about 3,006,553 (325)

Mutations mark cell lineages and sectors in flowers of a woody angiosperm. [PDF]

PLoS Genet
Ji Y, Chen X, Zhang X, Wang W, Xue L, Zhong Y, Tian D, Yang S, Wang L, Traw MB, Huang J.   +10 more
europepmc   +1 more source

Report on the 2nd MObility for Vesicle research in Europe (MOVE) symposium—2024

FEBS Open Bio, EarlyView.
The 2nd MObility for Vesicle research in Europe (MOVE) Symposium in Belgrade brought over 280 attendees from 28 countries to advance extracellular vesicle (EV) research. Featuring keynotes, presentations, and industry sessions, it covered EV biogenesis, biomarkers, therapies, and manufacturing.
Dorival Mendes Rodrigues‐Junior, Michaela Kocholata, Marilena E. Lekka, Olga Janouskova, Moran Yadid, Maja Kosanovic   +5 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis as a Multistep Process in the United States: A Population‐Based Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease that typically results in death within 3–5 years from symptom onset. However, little is known about the environmental exposures, clinical aspects, or social determinants of health factors that may be associated with the disease.
Jasmine Berry, Jaime Raymond, Theodore Larson, D. Kevin Horton, Moon Han, Theresa Nair, Ammar Al‐Chalabi, Paul Mehta   +7 more
wiley   +1 more source

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report. [PDF]

Front Pediatr
Xu W, Yang Y, Kang L, Guo L, Liu J, Zeng Y, Li L, Chen A, Zhang R, Dong W.   +9 more
europepmc   +1 more source

Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene. [PDF]

Prion
Tahir W, Dudas S, Anderson R, Yang J, Bogart S, Santiago-Mateo K, Fang Y, Quaghebeur R.   +7 more
europepmc   +1 more source

Multi-Regional Profiling of Epidermal Growth Factor Receptor L858R Mutation-Positive Metastatic Renal Pelvic Cancer Successfully Treated With Osimertinib. [PDF]

JCO Precis Oncol
Yamamoto Y, Kuwahara A, Kawashima A, Motooka D, Iwamoto Y, Yamamoto T, Kurashige M, Sakai D, Horibe Y, Ishizuya Y, Hayashi T, Takezawa K, Kato T, Hatano K, Kakuta Y, Satoh T, Morii E, Nonomura N.   +17 more
europepmc   +1 more source