Results 91 to 100 of about 10,821 (196)

Prevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency [PDF]

Jornal Brasileiro de Pneumologia
Objective: To evaluate the prevalence of alpha-1 antitrypsin (AAT) variants through SERPINA1 genotyping in patients with non-cystic fibrosis bronchiectasis, and assess their clinical, functional and radiological characteristics.
Caroline Souza Sokoloski, Mariane Gonçalves Martynychen Canan, Cleverson Alex Leitão, Karin Mueller Storrer   +3 more
doaj   +1 more source

Non melanoma skin cancer pathogenesis overview [PDF]

, 2018
(1)Background: Non-melanoma skin cancer is the most frequently diagnosed cancer in humans. The process of skin carcinogenesis is still not fully understood.
Bottoni Ugo, Cantisani Carmen, Didona Dario, Paolino Giovanni   +3 more
core   +1 more source

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

Advanced Science, Volume 13, Issue 16, 18 March 2026.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu, Ju‐Chan Park, Heesoo Uhm, Yong‐Woo Kim, Hyeon Woo Im, Sangsu Bae   +5 more
wiley   +1 more source

Granulomatosis With Polyangiitis Presenting as Deep Vein Thrombosis in an Adolescent: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Granulomatosis with polyangiitis can rarely present as deep vein thrombosis in adolescents. Unexplained thrombosis in a young patient, accompanied by systemic inflammatory features, should raise suspicion for an underlying vasculitis. Early recognition and prompt initiation of immunosuppressive therapy alongside anticoagulation are crucial to ...
Bishal Budha, Aron Shrestha, Satish Bajracharya, Dhiraj Poudel, Bishweshar Joshi, Pujan Pandey, Rajan Budha, Sadikshya Pandey, Bishal Panthi   +8 more
wiley   +1 more source

Familial vasculitides: granulomatosis with polyangitis and microscopic polyangitis in two brothers with differing anti-neutrophil cytoplasm antibody specificity [PDF]

, 2016
Anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) is a group of rare autoimmune diseases. Although the aetiology of AAV is uncertain, it is likely that genetic and environmental factors contribute.
Cairns, T, Prendecki, M, Pusey, CD
core   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Modified serpinA1 as risk marker for Parkinson’s disease dementia: Analysis of baseline data [PDF]

Scientific Reports, 2016
AbstractEarly detection of dementia in Parkinson disease is a prerequisite for preventive therapeutic approaches. Modified serpinA1 in cerebrospinal fluid (CSF) was suggested as an early biomarker for differentiation between Parkinson patients with (PDD) or without dementia (PD).
Halbgebauer, Steffen, Nagi, Magdalena, Klafki, Hans, Haußmann, Ute, Steinacker, Petra, Oeckl, Patrick, Kassubek, Jan, Pinkhardt, Elmar, Ludolph, Albert C, Soininen, Hilkka, Herukka, Sanna-Kaisa, Wiltfang, Jens, Otto, Markus   +12 more
openaire   +5 more sources

Hepatic SerpinA1 improves energy and glucose metabolism through regulation of preadipocyte proliferation and UCP1 expression

Nature Communications
Lipodystrophy and obesity are associated with insulin resistance and metabolic syndrome accompanied by fat tissue dysregulation. Here, we show that serine protease inhibitor A1 (SerpinA1) expression in the liver is increased during recovery from ...
Shota Okagawa, Masaji Sakaguchi, Yuma Okubo, Yuri Takekuma, Motoyuki Igata, Tatsuya Kondo, Naoki Takeda, Kimi Araki, Bruna Brasil Brandao, Wei-Jun Qian, Yu-Hua Tseng, Rohit N. Kulkarni, Naoto Kubota, C. Ronald Kahn, Eiichi Araki   +14 more
doaj   +1 more source

Proteomics for rejection diagnosis in renal transplant patients: where are we now? [PDF]

, 2016
Rejection is one of the key factors that determine the long-term allograft function and survival in renal transplant patients. Reliable and timely diagnosis is important to treat rejection as early as possible.
Gwinner, Wilfried, Husi, Holger, Marx, David, Metzger, Jochen   +3 more
core   +1 more source

Early Cancer Detection: What's Going on and What's Next

MedComm, Volume 7, Issue 3, March 2026.
Multicancer early detection (MCED) platforms have emerged as a promising strategy for the safe and effective early detection of multiple cancer types, with the potential to reduce metastatic burden and improve clinical outcomes, particularly for aggressive malignancies that lack effective population‐level screening.
Emma Di Carlo
wiley   +1 more source