Results 241 to 250 of about 135,756 (330)

Within genome variation of germ-line and somatic mutation

, 2017
Variation in the mutation rate along the human genome, if not properly understood and accounted\ud for, has the potential to confound evolutionary studies, produce spurious driver candidates in cancer\ud studies, and hinder the diagnostics aimed at understanding the etiologies of genetic diseases.\ud \ud In this thesis I consider mutation rate ...
openaire  

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Generation of Induced Pluripotent Stem Cells and Neuroepithelial Stem Cells from a Family with the Pathogenic Variant p.Q337X in Progranulin. [PDF]

Int J Mol Sci
Gaweda-Walerych K, Figarski A, Gawlik-Zawiślak S, Woźniak M, Chołoniewska A, Mierzwa N, Lutostańska E, Szymanowski J, Wężyk M.   +8 more
europepmc   +1 more source

Allergic Sensitization to Inhalant Allergens in the Upper Respiratory Tract—the B Cell Side

Allergy, EarlyView.
ABSTRACT Allergic diseases are on the rise worldwide, driven by respiratory epithelial barrier dysfunction that promotes sensitization to inhalant allergens such as pollen, dust mites, pet dander, and fungal spores. These antigens trigger IgE‐mediated immune responses that lead to diseases such as allergic rhinitis (AR) and asthma.
Ola Grimsholm, Mohammed Zghaebi, Bita Hambrecht, Tanja Kalic, Christopher C. Udoye, Rudolf Manz, Barbara Bohle, Katarzyna M. Sitnik, Julia Eckl‐Dorna, Heimo Breiteneder   +9 more
wiley   +1 more source

The use of deidentified organ donor testes for research

Andrology, EarlyView.
Abstract Our knowledge of testis development and function mainly comes from research using mammalian model organisms, primarily the mouse. However, there are integral differences between men and other mammalian species regarding cellular composition and expression profiles during fetal and post‐natal testis development and in the mature testis ...
Marina V. Pryzhkova, Marnie W. Skinner, Juliana I. Candelaria, Stephen R. Wellard, Philip W. Jordan   +4 more
wiley   +1 more source

Limited availability of variant-specific germ line data creates challenges in the interpretation of myeloid NGS panels. [PDF]

Blood Vessel Thromb Hemost
Winer AJ, Mason EF, Bick AG, Savona MR, Kishtagari A.   +4 more
europepmc   +1 more source

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

, 1991
Andrew Metzger, Val C. Sheffield, Geoffrey M. Duyk, Laleh Daneshvar, Michael S. B. Edwards, P H Cogen   +5 more
openalex   +2 more sources

Pharmacogenetics of follicle‐stimulating hormone action in the male

Andrology, EarlyView.
Abstract Male factor infertility (MFI) is involved in half of the cases of couple infertility. The follicle‐stimulating hormone (FSH) therapy is considered efficient to improve semen parameters and pregnancy rate in patients with idiopathic MFI, following the lesson learned from hypogonadotropic hypogonadism.
Andrea Graziani, Giuseppe Grande, Raffele Scafa, Riccardo Selice, Andrea Garolla, Maria Santa Rocca, Cinzia Vinanzi, Alberto Ferlin   +7 more
wiley   +1 more source

Allogeneic hematopoietic stem cell transplantation in patients with germ line DDX41 mutated myeloid malignancies. [PDF]

Blood Adv
Loschi M, Villy MC, Galimard JE, Auboiroux MM, Gachard N, Perani A, Duchmann M, Largeaud L, Nguyen S, Sicre de Fontbrune F, Robin M, Yakoub-Agha I, Daguindau E, Chantepie S, Charbonnier A, Lebon D, Maury S, Labussiere-Wallet H, Huynh A, Forcade E, Castilla-Llorente C, Cluzeau T, Adès L, D'aveni M, Devillier R, Maillard N, Benachour S, Dombret H, Récher C, Pigneux A, Clappier E, Delabesse E, Duployez N, Turlure P, Peffault de Latour R, Sébert M.   +35 more
europepmc   +1 more source

Elevated mutation rates in the germ line of first- and second-generation offspring of irradiated male mice

, 2002
Ruth Barber, Mark Plumb, Emma Boulton, Isabelle Roux, Yuri E. Dubrova   +4 more
openalex   +1 more source