Results 101 to 110 of about 464,487 (319)

Identification of novel germline mutations in hereditary colorectal cancer patients and characterization of somatic alterations in their tumors [PDF]

, 2008
Colorectal cancer has been reported as the third leading cause of cancer related death in the world. About 5-10% of colorectal cancers are due to an inherited predisposition.
Zhang, Jian
core   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia

, 1997
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core  

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
Cristina Scaduto, Tonon C, Caporali L, NASSETTI, STEFANIA-ALESSANDRA, Daniela Brunetto, Nassetti, Stefania, Raffaele Lodi, Tonon, Caterina, Francesco Toni, Stipa C, Carelli V., D. Brunetto, Antonio Torroni, A. Torroni, Caterina Tonon, Leonardo Caporali, F. Gandini, Chiara La Morgia, Toni, Francesco, Toni F, Nassetti S, Lodi R, Brunetto D, Anna Olivieri, Francesca Gandini, La Morgia C, Brunetto, Daniela, Parmeggiani, Antonia, Carlotta Stipa, Gandini, Francesca, Scaduto C, C. Scaduto, Stefania Nassetti, Valerio Carelli, Stipa, Carlotta, Carelli, Valerio, Scaduto, Cristina, Lodi, Raffaele, La Morgia, Chiara, Antonia Parmeggiani, Caporali, Leonardo, Torroni, Antonio, Olivieri, Anna, A. Olivieri, Parmeggiani A   +44 more
core   +1 more source

Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Annals of the Child Neurology Society
Background Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene.
Lekshmi Peringassery Sateesh, Pavani Chitamanni, Danielle Akinsanmi, Suman Ghosh, Steven G. Pavlakis, Alexandra Reznikov   +5 more
doaj   +1 more source

Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: A case report

Indian Journal of Radiology and Imaging, 2016
Hereditary spastic paraplegia (HSP) is a rare heterogeneous group of familial neurodegenerative disorders characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord.
Sonam Priya, Naznin Siddique, Ruchira Das, Archana Singh   +3 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Colorectal cancer and associated genetic, lifestyle, cigarette, nargileh-hookah use and alcohol consumption risk factors: a comprehensive case-control study

Oncology Reviews
AimThis study aimed to investigate the causes and risk factors of colorectal cancer (CRC) in a Turkish population, focusing on various modifiable and non-modifiable risk factors.MethodsA hospital-based case-control design was employed to compare ...
Abdulbari Bener, Abdulbari Bener, Ahmet Emin Öztürk, Muhammed Furkan Dasdelen, Cem Cahit Barisik, Zehra Betul Dasdelen, Ahmet F. Agan, Jean De La Rosette, Andrew S. Day   +8 more
doaj   +1 more source

A Family with Palmar and Plantar Hyperkeratosis: A Quiz

Acta Dermato-Venereologica, 2020
is missing (Quiz)
Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer   +5 more
doaj   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source