Results 81 to 90 of about 88,563 (282)

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

Children
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations.
Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Brasi   +11 more
doaj   +1 more source

Coats disease: An overview of classification, management and outcomes

Indian Journal of Ophthalmology, 2019
Coats disease is an idiopathic retinal vascular disorder with retinal telangiectasia with intraretinal and/or subretinal exudation without appreciable retinal or vitreal traction.
Mrittika Sen, Carol L Shields, Santosh G Honavar, Jerry A Shields   +3 more
doaj   +1 more source

An essential function for the ATR-Activation-Domain (AAD) of TopBP1 in mouse development and cellular senescence [PDF]

, 2013
ATR activation is dependent on temporal and spatial interactions with partner proteins. In the budding yeast model, three proteins – Dpb11TopBP1, Ddc1Rad9 and Dna2 - all interact with and activate Mec1ATR.
A Aguilera, A Balestrini, A Ciccia, A de Klein, A Kumagai, A Kumagai, A Mavrou, Anja Krueger, Antony M. Carr, C Cotta-Ramusino, Christopher Bruhn, Cong Liu, D Boos, D Branzei, D Cortez, DA Mordes, DA Mordes, EA Nam, EJ Brown, EJ Brown, FD Sweeney, H Wang, HL Ball, HY Yoo, J Lee, JE Kim, K Furuya, K Liu, K Liu, K Liu, K Liu, K Yamane, KA Cimprich, L Zou, L Zou, LA Lindsey-Boltz, LI Toledo, M Qu, Marshall S. Horwitz, O Limbo, P Bork, P Zegerman, PJ Woolf, R Gruber, RJ Edwards, S Biton, S Delacroix, S Kumar, S Liu, S Mochida, SJ Lin, SP Jackson, T Usui, Tang-Liang Li, V Garcia, VM Navadgi-Patil, VM Navadgi-Patil, WooKee Min, X Xu, X Yu, Y Jeon, Y Jeon, Y Lee, Z You, Z Zhou, Zhao-Qi Wang, Zhong-Wei Zhou, ZQ Wang   +67 more
core   +3 more sources

Inadequate Zinc Intake in Adolescents Aggravates Inflammatory Bowel Disease by Inhibiting Antibody Class Switch Recombination in Mucosal B Cells Through Intestinal Microbial‐Derived KMV

iMetaMed, EarlyView.
The study reveals that inadequate zinc intake disrupts gut microbiota's ability to degrade isoleucine, leading to the accumulation of metabolite KMV. KMV inhibits antibody class‐switching in mucosal B cells by suppressing the p‐ATM‐CTIP‐Hmces pathway, impairing IgA/IgG production.
Wenbo Jiang, Yiding Geng, Bai Li, Conghui Qiao, Zijie Liu, Xinyu Shan, Xinyang Wang, Wei Wei, Tianshu Han   +8 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

MRE11 facilitates the removal of human topoisomerase II complexes from genomic DNA [PDF]

, 2012
Topoisomerase II creates a double-strand break intermediate with topoisomerase covalently coupled to the DNA via a 5'-phosphotyrosyl bond. These intermediate complexes can become cytotoxic protein-DNA adducts and DSB repair at these lesions requires ...
Austin, Caroline, Cockell, Simon, Cowell, Ian, Curtis, Hannah, Jackson, Graham, Lee, Ka Cheong, Moiani, Davide, Morris, Nicholas, Padget, Kay, Sondka, Zbyslaw, Tainer, John   +10 more
core   +3 more sources

Impact of organic pollutants on phenotype and gene expression in human breast cancer cells

Journal of Applied Toxicology, EarlyView.
ABSTRACT Human exposure to industrial chemical compounds is widespread and, although often beneficial, prolonged contact may contribute to disease development, including cancer. While many studies have shown organic pollutants (OP) are cytotoxic, few have explored how long‐term exposure alters cell phenotype.
Camila Confortin, Heloisa Amancio, Jessica Zablocki da Luz, Aliciane de Almeida Roque, Tugstênio Lima de Souza, José Eduardo Vargas, Ciro Alberto de Oliveira Ribeiro, Francisco Filipak Neto   +7 more
wiley   +1 more source

Hereditary Hemorrhagic Telangiectasia - a literature review

Journal of Education, Health and Sport
Introduction and purpose: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and complex vascular disorder characterized by abnormal blood vessel formation.
Marcel Stodolak, Aleksandra Krużel, Kamil Kłos, Piotr Sajdak, Justyna Tomasik, Marika Dębik, Łukasz Szydłowski, Klaudia Żurowska, Seweryn Ziajor, Artur Bednarski, Mikołaj Turski   +10 more
doaj   +1 more source

Symptomatic capillary telangiectasia of the pons and intracerebral developmental venous anomaly – a rare association [Simptomatska kapilarna teleangiektazija ponsa i intracerebralna razvojna venska anomalija: prikaz slučaja] [PDF]

, 2011
Various combinations of vascular malformations of the brain in one lesion have been reported, while others seem to be very rare. In this report, the authors discuss the case of a coexistence of an capillary telangiectasia of the pons and intracerebral ...
Markeljević, Jasenka, Pavliša, Goran, Perić, Berislav, Radoš, Marko, Telarović, Srđana, Šarac, Helena   +5 more
core  

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources