Results 81 to 90 of about 4,782 (148)

Sequence Context‐Agnostic TadA‐Derived Cytosine Base Editors for Genome‐Wide Editing in Zebrafish

Advanced Science, Volume 12, Issue 14, April 10, 2025.
zTadA‐CBEs, developed by introducing key mutations into TadA8e, enable efficient and precise sequence context‐agnostic cytosine base editing. Specifically, zTadA‐BE4max and zTadA‐BEmv provide complementary editing windows, while zTadA‐SpRY‐BE4max offers PAM‐flexible editing.
Shaohui Zheng, Yang Liu, Xinxin Xia, Jiawang Xiao, Hui Ma, Xuanyao Yuan, Yan Zhang, Zixi Chen, Guangcong Peng, Wenyuan Li, Ji‐Feng Fei, Yanmei Liu   +11 more
wiley   +1 more source

Neurological Manifestations in Primary Immunodeficiencies [PDF]

, 2016
As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações
Conde, M, Cordeiro, AI, Farela Neves, J, Lopes Silva, R, Neves, C, Oliveira, M   +5 more
core  

Diagnosing haemophagocytic syndrome [PDF]

, 2016
Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory disorder characterised by uncontrolled activation of the immune system.
Ramanan, Athimalaipet V, Sen, Ethan S, Steward, Colin G   +2 more
core   +2 more sources

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

Systematic review: macrophage activation syndrome in inflammatory bowel disease [PDF]

, 2013
BACKGROUND: Recently, there have been increasingly frequent reports on the occurrence of macrophage activation syndrome (MAS) in patients with inflammatory bowel disease (IBD).
CASCIO, ANTONIO, COTTONE, Mario, Fries W
core   +1 more source

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report [PDF]

, 2019
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome.
Awan, Bilal, Iqbal, Aqsa, Khan, Aslam, Kumar, Vinesh, Nawaz, Abid, Shaikh, Safia, Shaukat, Nauman   +6 more
core   +2 more sources

Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet

Lung India, 2019
Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction.
Abhishek Gupta, Ketaki Utpat, Unnati Desai, Jyotsna M Joshi   +3 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Modeling Neural Crest Induction, Melanocyte Specification, and Disease-Related Pigmentation Defects in hESCs and Patient-Specific iPSCs

Cell Reports, 2013
Melanocytes are pigment-producing cells of neural crest (NC) origin that are responsible for protecting the skin against UV irradiation. Pluripotent stem cell (PSC) technology offers a promising approach for studying human melanocyte development and ...
Yvonne Mica, Gabsang Lee, Stuart M. Chambers, Mark J. Tomishima, Lorenz Studer   +4 more
doaj   +1 more source