Results 1 to 10 of about 791,916 (337)

Polymorphisms in MMP-1, MMP-2, MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population

open access: yesHereditary Cancer in Clinical Practice, 2020
Background Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis.
Katarzyna Białkowska   +17 more
doaj   +1 more source

Genetic testing for hereditary breast cancer in Poland: 1998–2022

open access: yesHereditary Cancer in Clinical Practice, 2023
BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1.
Jacek Gronwald   +7 more
doaj   +1 more source

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidney cell type consensus signatures

open access: yesScientific Data, 2023
While the amount of studies involving single-cell or single-nucleus RNA-sequencing technologies grows exponentially within the biomedical research area, the kidney field requires reference transcriptomic signatures to allocate each cluster its matching ...
Marceau Quatredeniers   +5 more
doaj   +1 more source

Hong Kong–Macau Severe Hives and Angioedema Referral Pathway

open access: yesFrontiers in Allergy, 2023
BackgroundUrticaria (defined as the presence of hives, angioedema, or both) can be caused by a variety of etiologies ranging from more common conditions such as chronic spontaneous urticaria (CSU) to rarer conditions such as hereditary angioedema (HAE ...
Philip H. Li   +10 more
doaj   +1 more source

Glucocorticoids Influencing Wnt/β-Catenin Pathway; Multiple Sites, Heterogeneous Effects

open access: yesMolecules, 2020
Glucocorticoid hormones are vital; their accurate operation is a necessity at all ages and in all life situations. Glucocorticoids regulate diverse physiological processes and they use many signaling pathways to fulfill their effect.
Katalin Meszaros, Attila Patocs
doaj   +1 more source

Translation and validation into Brazilian Portuguese of the Spastic Paraplegia Rating Scale (SPRS) [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2016
Hereditary spastic paraplegias (HSP) are characterized by progressive lower limb weakness and spasticity. There are no validated instruments to quantify disease severity in Portuguese.
Katiane R. Servelhere   +3 more
doaj   +1 more source

Hereditary topological diagonalizations and the Menger-Hurewicz Conjectures [PDF]

open access: yes, 2010
We consider the question, which of the major classes defined by topological diagonalizations of open or Borel covers is hereditary. Many of the classes in the open case are not hereditary already in ZFC, and none of them is provably hereditary.
Bartoszynski, Tomek, Tsaban, Boaz
core   +3 more sources

Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity

open access: yesFrontiers in Neurology, 2017
BackgroundSpinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology.AimTo ...
Dennis Almaguer-Gotay   +8 more
doaj   +1 more source

The prevalence of self-reported bleeding tendency symptoms among adolescents in Almadinah Almunawwarah, Kingdom of Saudi Arabia

open access: yesJournal of Family Medicine and Primary Care, 2021
Bleeding tendency is a common medical problem that is usually caused by either coagulation factors abnormalities, platelets disorders, or vasculopathy. Detection of patients with high bleeding risk through history taking and accurate diagnosis followed ...
Mohammed A Zolaly   +4 more
doaj   +1 more source

Metastatic follicular thyroid cancer in a patient with Birt‐Hogg‐Dubé syndrome

open access: yesClinical Case Reports, 2021
Birt‐Hogg‐Dubé syndrome (BHDS) is an extremely rare genetic condition that predisposes to renal cell carcinoma. This case describes a novel case of a patient with BHDS who also develops follicular thyroid cancer.
Elisa K. Bongetti   +3 more
doaj   +1 more source

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