Results 71 to 80 of about 88,563 (282)

An Unusual Association of Interstitial Lung Disease with Pulmonary Arterio-venous Malformation: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Interstitial Lung Disease (ILD) in diffuse cutaneous Systemic Sclerosis (SSc) patients is present in about 53% of cases and 35% in cases with limited cutaneous SSc.
Rahul Mittal, Praveen Raj Seetharaman, Subramanian Suriyan, Nagarjun Sakthivel   +3 more
doaj   +1 more source

Mechanisms conferring sensitivity to low dose radiation exposure and consideration of potentially sensitivie individuals [PDF]

, 2009
No description ...
Jeggo, Penny
core  

Severe hepatic and pulmonary involvement in Rendu-Osler-Weber syndrome [PDF]

, 2018
We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are ...
Geerts, Anja, Lecluyse, Clarisse, Smeets, Peter, Van Vlierberghe, Hans, Verhelst, Xavier   +4 more
core   +3 more sources

Hypertensive portal colopathy in schistosomiasis mansoni: proposal for a classification

Memorias do Instituto Oswaldo Cruz, 2004
Portal hypertension is a frequent complication of chronic liver disease, detected not only in schistosomiasis, but also in cirrhosis of any etiology. Vascular alterations in the colonic mucosa are a potential source for acute or chronic bleeding and have
Maria Angelina C Miranda, Ana Lúcia C Domingues, Heloisa S Dias, Renata C Miranda, Norma T Jucá, Maria Fátima M Albuquerque, Fernando T Cordeiro   +6 more
doaj   +1 more source

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]

, 2013
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan, Borgida, Ayelet E, Gallinger, Steven, Grant, Robert C, Holter, Spring, Kanji, Zaheer S, McPherson, John D, McPherson, Treasa, Peltekova, Vanya, Serra, Stefano, Stein, Lincoln D, Trinh, Quang M, Whelan, Emily   +12 more
core   +3 more sources

CREST Syndrome in Systemic Sclerosis Patients – Is Dystrophic Calcinosis a Key Element to a Positive Diagnosis?

Journal of Inflammation Research, 2022
Carmen Bobeica,1,* Elena Niculet,1,2 Mihaela Craescu,1 Elena-Laura Parapiru,3,* Carmina Liana Musat,1,* Ciprian Dinu,4,* Iulia Chiscop,5,* Luiza Nechita,3,* Mihaela Debita,6,* Victorita Stefanescu,6,* Ioana Anca Stefanopol,
Bobeica C, Niculet E, Craescu M, Parapiru EL, Musat CL, Dinu C, Chiscop I, Nechita L, Debita M, Stefanescu V, Stefanopol IA, Nechifor A, Pelin AM, Balan G, Chirobocea S, Vasile CI, Tatu AL   +16 more
doaj  

PI3K (Phosphatidylinositol 3-Kinase) Activation and Endothelial Cell Proliferation in Patients with Hemorrhagic Hereditary Telangiectasia Type 1

Cells, 2019
Hemorrhagic hereditary telangiectasia (HHT) type 2 patients have increased activation of the phosphatidylinositol 3-kinase (PI3K) signaling pathway in telangiectasia.
Adriana Iriarte, Agnes Figueras, Pau Cerdà, José María Mora, Anna Jucglà, Rosa Penín, Francesc Viñals, Antoni Riera-Mestre   +7 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Genomic stability in response to high versus low linear energy transfer radiation in Arabidopsis thaliana. [PDF]

, 2014
Low linear energy transfer (LET) gamma rays and high LET HZE (high atomic weight, high energy) particles act as powerful mutagens in both plants and animals.
Britt, Anne B, Conklin, Phillip A, Friesner, Joanna D, Huefner, Neil D, Yoshiyama, Kaoru   +4 more
core   +1 more source

ID3 deficiency alters chromatin accessibility at DSB sites and enhances vulnerability to HDAC inhibition

International Journal of Cancer, EarlyView.
What's New? Errors in DNA double‐strand break (DSB) repair can lead to mutations, chromosomal instability, and ultimately cancer. Inhibitor of DNA‐binding 3 (ID3), a transcriptional repressor, is crucial to promoting DSB repair and helping maintain genome stability. Here, the authors investigated ID3 regulation of DNA repair via chromatin accessibility
Giuditta Della Corte, Hossam Eldesouky, Julia Puchan, Sercan Öz, Elena Everatt, Ashish Goyal, Gianluca Sigismondo, Udo Oppermann, Christoph Plass, Dieter Weichenhan, Ali Bakr   +10 more
wiley   +1 more source