Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy
Sign Up to like & getrecommendations! Published in 2024 at "Neurological Sciences"
DOI: 10.1007/s10072-024-07690-7
Abstract: Parkinson’s disease (PD) is a progressive neurodegenerative disorder with a multifactorial pathogenesis. Several genetic variants increase the risk of PD and about 5–10% of cases are monogenic. This study aims to define the genetic bases… read more here.
Keywords: disease; disease screening; genetic mutations; parkinson disease ... See more keywords
Role of key genetic mutations on increasing migration of brain cancer cells through confinement
Sign Up to like & getrecommendations! Published in 2017 at "Biomedical Microdevices"
DOI: 10.1007/s10544-017-0197-9
Abstract: Uncontrolled invasive cancer cell migration is among the major challenges for the treatment and management of brain cancer. Although the genetic profiles of brain cancer cells have been well characterized, the relationship between the genetic… read more here.
Keywords: brain cancer; confinement; migration; genetic mutations ... See more keywords
Focus on increased serum angiotensin-converting enzyme level: From granulomatous diseases to genetic mutations.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical biochemistry"
DOI: 10.1016/j.clinbiochem.2018.06.010
Abstract: Angiotensin I-converting enzyme (ACE) is a well-known zinc-metallopeptidase that converts angiotensin I to the potent vasoconstrictor angiotensin II and degrades bradykinin, a powerful vasodilator, and as such plays a key role in the regulation of… read more here.
Keywords: focus increased; converting enzyme; angiotensin converting; genetic mutations ... See more keywords
Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-35733-5
Abstract: NKX family members are involved in a variety of developmental processes such as cell fate determination in the central nervous system, gastrointestinal tract, and pancreas. However, whether NKX6.3 contributes to gastric carcinogenesis remains unclear. The… read more here.
Keywords: aicda apobec; nkx6 depletion; multiple genetic; family ... See more keywords
Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant
Sign Up to like & getrecommendations! Published in 2024 at "Scientific Reports"
DOI: 10.1038/s41598-024-83113-z
Abstract: Panel of known genetic mutations (SPINK1, PRSS1, PRSS2, CTRC, and CFTR) in patients with Fibrocalcific pancreatic diabetes (FCPD)compared to Type 2 Diabetes (T2DM) and healthy controls with emphasis on SPINK1 (N34S) mutations. Whole blood samples… read more here.
Keywords: fibrocalcific pancreatic; genetic mutations; cftr; spink1 n34s ... See more keywords
Differences of clinical features, prognosis and genetic mutations in Chinese patients with malignant melanoma and additional primary tumours
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Medicine"
DOI: 10.1080/07853890.2025.2493769
Abstract: Abstract Background The differences in the clinical features, prognosis and genetic mutations in Chinese patients with malignant melanoma (MM) and additional primary tumours remain unclear. Methods A retrospective analysis was conducted on patients with malignancies… read more here.
Keywords: genetic mutations; differences clinical; melanoma additional; primary tumours ... See more keywords
Healthy lifestyle? or just the right genetic mutations
Sign Up to like & getrecommendations! Published in 2023 at "Cell Cycle"
DOI: 10.1080/15384101.2023.2206351
Abstract: ABSTRACT The development of genomic technologies over the past decades has enabled identification of genetic variants responsible of disease; occasionally however, protective rare variants emerged. Verweij et al have recently reported genetic variants in CIDEB… read more here.
Keywords: healthy lifestyle; lifestyle right; genetic mutations; right genetic ... See more keywords
Genetic mutations in chronic lymphocytic leukemia: impact on clinical treatment
Sign Up to like & getrecommendations! Published in 2019 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2019.1575130
Abstract: ABSTRACT Introduction: Several recurrently deregulated pathways implicated in the development of chronic lymphocytic leukemia (CLL) have been described over the last decades. Knowledge of the CLL genetic heterogeneity led to the definition of molecular biomarkers… read more here.
Keywords: lymphocytic leukemia; hematology; treatment; genetic mutations ... See more keywords
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2018.0004
Abstract: BACKGROUND Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence… read more here.
Keywords: mutations demographic; demographic clinical; myofibrillar myopathy; clinical morphological ... See more keywords
Genetics of vascular malformation and therapeutic implications.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000000794
Abstract: PURPOSE OF REVIEW Vascular malformations (VaMs) are a consequence of disrupted morphogenesis that may involve arterial, capillary, venous, or lymphatic endothelium alone or in a combination. VaMs can have serious health impacts, leading to life-threatening… read more here.
Keywords: vascular malformation; genetic mutations; malformation therapeutic; genetics ... See more keywords
Genetic Mutations Driving Aplastic Anemia: A Focus on Key Allelic Changes
Sign Up to like & getrecommendations! Published in 2025 at "European Journal of Haematology"
DOI: 10.1111/ejh.14399
Abstract: Aplastic Anemia (AA) is a rare blood disorder where the bone marrow fails, leading to pancytopenia. Most of the time it is idiopathic; however, it can also be caused by drugs, radiation, infections, or genetic… read more here.
Keywords: hla; aplastic anemia; genetic mutations; anemia ... See more keywords