Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Gazmend Temaj"'
Publikováno v:
Research Results in Pharmacology, Vol 10, Iss 2, Pp 27-39 (2024)
Introduction: Acute lymphoblastic leukemia (ALL) is the most frequent pediatric leukemia; it can be defined according to chromosomic and genomic data. Cytogenetic analyses and determination of chromosomal numbers (such as hypo- or hyperdiploidy) and/
Externí odkaz:
https://doaj.org/article/e06b932a662b4d8eaa73c281f1f65503
Publikováno v:
Pharmacia, Vol 70, Iss 4, Pp 1005-1013 (2023)
Systemic lupus erythematosus (SLE) is a disease associated with an impaired autoimmune response; the immune system attacks erroneously own tissues, which leads to inflammation, tissue damage and complement activation. The latter plays a pivotal role
Externí odkaz:
https://doaj.org/article/f6a38544e49541b999be19d764e1fc43
Autor:
Bjoern Wimmer, Andreas Friedrich, Katharina Poeltner, Genevieve Edobor, Claudia Mosshammer, Gazmend Temaj, Adriana Rathner, Thomas Karl, Jan Krauss, Joerg von Hagen, Christopher Gerner, Michael Breitenbach, Helmut Hintner, Johann W. Bauer, Hannelore Breitenbach-Koller
Publikováno v:
JID Innovations, Vol 4, Iss 1, Pp 100240- (2024)
Severe junctional epidermolysis bullosa is a rare genetic, postpartum lethal skin disease, predominantly caused by nonsense/premature termination codon (PTC) sequence variants in LAMB3 gene. LAMB3 encodes LAMB3, the β subunit of epidermal–dermal s
Externí odkaz:
https://doaj.org/article/4d88c64922d84de5a93446e34553b30c
Publikováno v:
Folia Medica, Vol 65, Iss 1, Pp 161-165 (2023)
Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome type B, is a metabolic disease caused by mutations in both alleles of the NAGLU gene encoding for the enzyme α-N-acetylglucosaminidase. A malfunction of this enzyme causes
Externí odkaz:
https://doaj.org/article/889739d893ad41a7a283ab963bcfefa1
Publikováno v:
Research Results in Pharmacology, Vol 8, Iss 4, Pp 15-24 (2022)
Introduction: The process of protein synthesis is a vital process for all kingdoms of life. The ribosome is a ribonucleoprotein complex that reads the genetic code, from messenger RNA (mRNA) to produce proteins and to tightly regulate and ensure cell
Externí odkaz:
https://doaj.org/article/48e53740a2e349cf805ef9827de1754c
Publikováno v:
Folia Medica, Vol 64, Iss 4, Pp 649-654 (2022)
Introduction: Many authors in their research have suggested an association between vitamin D and asthma, but the results from these publications are sometimes confusing.Aim: Our aim was to assess the relationship between serum vitamin D and lung func
Externí odkaz:
https://doaj.org/article/9fb358c5958f42d88a45a76e93166c3e
Publikováno v:
F1000Research, Vol 11 (2023)
Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brai
Externí odkaz:
https://doaj.org/article/8d747da280bc493dbd61faa05b47dba0
Autor:
Gazmend Temaj, Pelin Telkoparan-Akillilar, Nexhibe Nuhii, Silvia Chichiarelli, Sarmistha Saha, Luciano Saso
Publikováno v:
Biomedicines, Vol 11, Iss 3, p 659 (2023)
Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation
Externí odkaz:
https://doaj.org/article/420811ee932e41d8873f4a2121cc8cb0
Autor:
Gazmend Temaj, Silvia Chichiarelli, Margherita Eufemi, Fabio Altieri, Rifat Hadziselimovic, Ammad Ahmad Farooqi, Ilhan Yaylim, Luciano Saso
Publikováno v:
Biomedicines, Vol 10, Iss 9, p 2088 (2022)
The human ribosomes are the cellular machines that participate in protein synthesis, which is deeply affected during cancer transformation by different oncoproteins and is shown to provide cancer cell proliferation and therefore biomass. Cancer disea
Externí odkaz:
https://doaj.org/article/a1f97a94b58049e28327427ca3b58927
Publikováno v:
Current Pediatric Reviews. 19:150-156
Abstract: Acute lymphoblastic leukemia is the most frequent pediatric malignancy in children, comprising 30% of all pediatric malignancies; adult ALL comprises 5% of all ALL cases, which have a 186.6 per 1 million incidence. In pediatric ALL (pALL),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e704cc537ff6e8910355d03340f89e6
https://doi.org/10.2174/1573396318666220901165247
https://doi.org/10.2174/1573396318666220901165247