Results 231 to 240 of about 444,809 (263)

A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous <i>PFKM</i> Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia. [PDF]

J Clin Med
Neculcea AC, Aanicai R, Massoto B, Nistor RI, Fierbințeanu-Braticevici C, Mambet C, Mititelu A, Neagu AM, Paraschiv C, Popescu M, Severin E, Vlădăreanu AM.   +11 more
europepmc   +1 more source

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

Annals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola, Maija Saraste, Edoardo Pedrini, Joel Tuomaala, Luzia Buchholz, Markus Matilainen, Johanna Lindenberg, Eeva‐Christine Brockmann, Maria Sofia Martire, Sofia Sandgren, David Leppert, Jens Kuhle, Tanja Kuhlmann, Martina Absinta, Laura Airas   +14 more
wiley   +1 more source

Editorial: The significance of induced pluripotent stem cells in translational medicine. [PDF]

Front Immunol
Alvarez-Palomo B, Skokowa J, Latsoudis H.   +2 more
europepmc   +1 more source

Molecular methods for differentiating Phragmites australis subspecies and identification of hybrid stands in the Upper Midwestern United States

Applications in Plant Sciences, EarlyView.
Abstract Premise In North America, Phragmites australis (common reed) has drawn a great deal of research attention. Non‐native P. australis subsp. australis is a noxious weed that has locally displaced native P. australis subsp. americanus in some areas.
Nicholas P. Tippery, Daniel J. Larkin, Julia Bohnen, Douglas L. Wendell, Neil O. Anderson, Susan M. Galatowitsch, Marie Abbey, Alan G. Smith, Andrzej K. Noyszewski   +8 more
wiley   +1 more source

Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease. [PDF]

Front Genet
Chong L, Li Y, Wang Y, Wang J, Han J.
europepmc   +1 more source

SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development

The Anatomical Record, EarlyView.
Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli, Andrew B. Harvey, Inara Devji, Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Andy Wessels   +6 more
wiley   +1 more source

Functional Validation of a Novel Homozygous <i>TTN</i> Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy. [PDF]

Hum Mutat
Sun X, Wang D, Wang S, Wan R, Jiang Z, Zhang W, Ouyang J, Shen Y, Hong K.   +8 more
europepmc   +1 more source

High prevalence of pediculosis, associated factors, and exploratory detection of the knockdown resistance mutations in head lice from school settings in Chonburi Province, eastern Thailand. [PDF]

Parasit Vectors
Thanchomnang T, Gordon CN, Krittanan P, Yangthaworn K, Thetkathuek A, Clegg SR, Mano C, Yingklang M.   +7 more
europepmc   +1 more source

Family Tree Mapping of Genetic and Phenotypic Codes of Hereditary Angioedema. [PDF]

Medicina (Kaunas)
Baş İ, Gökmen E, Dizdar Canbaz T, Ay E, Kural RF, Aslan E, Ateş Ü, Kırdök K, Kilavuz A, Kaçmaz ME, Aykut A, Ayaz E, Özyaman F, Gülen F, Duman Şenol H.   +14 more
europepmc   +1 more source