Results 61 to 70 of about 4,011,809 (261)

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis [PDF]

, 2001
Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas.
Dertinger, S., Ruebsamen, H., Lohse, P., Beck, M., Tautermann, G., Drexel, H.   +5 more
core   +1 more source

LDLR and ApoB are Major Genetic Causes of Autosomal Dominant Hypercholesterolemia in a Taiwanese Population

Journal of the Formosan Medical Association, 2007
Autosomal dominant hypercholesterolemia (ADH) is an autosomal dominant inherited disease characterized by an increase in low-density lipoprotein cholesterol levels and premature coronary heart disease, which can be caused by mutations in genes encoding ...
Kai-Chien Yang, Yi-Ning Su, Jin-Yuh Shew, Kai-Ying Yang, Wei-Kung Tseng, Chau-Chung Wu, Yuan-Teh Lee   +6 more
doaj   +1 more source

An Integrative Analysis Reveals the Underlying Association Between CTNNB1 Mutation and Immunotherapy in Hepatocellular Carcinoma

Frontiers in Oncology, 2020
Background: Tumor mutational burden (TMB) was verified to be closely associated with immune checkpoint inhibitors, but it is unclear whether gene mutation has an effect on immunotherapy of hepatocellular carcinoma (HCC).
Zhuomao Mo, Yongdan Wang, Zhirui Cao, Pan Li, Shijun Zhang   +4 more
doaj   +1 more source

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

FEBS Letters, EarlyView.
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley   +1 more source

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria [PDF]

, 2004
Background<br/><br/> Mutations in the gene coding for the RNA component of telomerase, hTERC, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia.
Ulku, B., Bessler, M., Bilsland, A., Mason, Philip J, Vulliamy, T., Serakinci, Nedime, Dokal, I., Ar, C., Ar, C, Marrone, Anna, Dokal, Inderjeet, Ulku, B, Bessler, Monica, Erzik, C, Serakinci, N, Serakinci, N., Marrone, A, Zhao, Jiangqin, Zhao, J, Dokal, I, Bilsland, A, Mason, PJ, Bilsland, Alan, Ulku, Birsen, Keith, W.N., Bessler, M, Vulliamy, T, Vulliamy, Tom, Keith, W Nicol, Erzik, Can, Marrone, A., Erzik, C., Zhao, J., Mason, P.J., Ar, Cem, Keith, WN, Tom Vulliamy, Alan Bilsland, W Nicol Keith, Jiangqin Zhao, Monica Bessler, Anna Marrone, Inderjeet Dokal, Nedime Serakinci, Philip J Mason, Cem Ar, Can Erzik, Birsen Ulku   +47 more
core   +2 more sources

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

, 2022
OBJECTIVES: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness.
Munis Dündar, Neslihan Sinim Kahraman, Sinim Kahraman, Neslihan, Öner, Ayşe, Yusuf Özkul, Özkul, Yusuf, Dündar, Munis, Kahraman, Neslihan Sinim, Ayşe Öner   +8 more
core   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

Evidence for a pathogenic role of different mutations at codon 188 of PRNP [PDF]

, 2008
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance.
Eva-Maria Grasbon-Frodl, Hans A Kretzschmar, Roeber, Sigrun, Arzberger, Thomas, Sigrun Roeber, Weber Petra, Krebs, Bjarne, Schröter, Andreas, Petra Weber, Illig, T., Zerr, I., Schröter, A., Arzberger, T., Illig Thomas, Windl, Otto, Bjarne Krebs, Wei Xiang, Hans A. Kretzschmar, Schroeter, Andreas, Kretzschmar, H.A., Inga Zerr, Grasbon-Frodl, Eva-Maria, Weber, Petra, Windl, O., Zerr, Inga, Schröter Andreas, Kretzschmar, Hans A., Xiang, W., Xiang Wei, Illig, Thomas, Zerr Inga, Thomas Illig, Vollmert, C., Grasbon-Frodl Eva-Maria, Kretzschmar Hans A., Caren Vollmert, Weber, P., Krebs Bjarne, Grasbon-Frodl, E.M., Krebs, B., Vollmert Caren, Vollmert, Caren, Roeber Sigrun, Xiang, Wei, Arzberger Thomas, Roeber, S., Windl Otto, Andreas Schröter, Otto Windl, Thomas Arzberger   +49 more
core   +2 more sources

Association between genetic mutations in lung adenocarcinoma and adult body mass index: a retrospective cohort study

Frontiers in Oncology
BackgroundThe impact of obesity on gene mutations in lung adenocarcinoma(ADC) remains unclear. This study investigates the association between Body Mass Index(BMI) and the gene mutation in ADC.MethodsThis study investigated the relationship between BMI ...
Yan qiao Wu, Lei Yang, Depeng Jiang
doaj   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source