Results 41 to 50 of about 5,095,980 (121)

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Light-chain amyloidosis with dysphagia as the main symptom: a case report

Journal of Medical Case Reports
Background Immunoglobulin light-chain amyloidosis is a relatively rare condition with a worldwide incidence of 5.1–12.8 cases per million person-years (Baker, 2022).
Maomao Ai, Tao Lin, Ruoyu Guo, Haiyao Zheng, Haiyan Deng, Feng Yu   +5 more
doaj   +1 more source

Lipid Metabolic Dysregulation Driven by OSMR Mutations Underlies Amyloidogenesis in Primary Localized Cutaneous Amyloidosis

Advanced Science, EarlyView.
OSMR mutations disrupt STAT5 signaling and AKR1B10‐mediated lipid metabolism, leading to lipid accumulation and protein aggregation in keratinocytes. This metabolic reprogramming drives amyloid deposition in primary localized cutaneous amyloidosis, revealing a mechanistic link between lipid dysregulation and amyloidogenesis.
Huiting Liu, Wen Zheng, Chao Yang, Tao Yang, Qiuyu Chen, Ping Lu, Huan Yang, Jun Liu, Bin Yang   +8 more
wiley   +1 more source

Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis [PDF]

, 2002
Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential ...
Booth, D.R., Gilbertson, J.A., Hawkins, P.N., Booth, S.E., Lachmann, H.J., Gillmore, J.D., Bybee, A., Pepys, M.B.   +7 more
core  

Germ line origin and somatic mutations determine the target tissues in systemic AL-amyloidosis. [PDF]

PLoS ONE, 2007
BACKGROUND: Amyloid is insoluble aggregated proteins deposited in the extra cellular space. About 25 different proteins are known to form amyloid in vivo and are associated with severe diseases such as Alzheimer's disease, prion diseases and type-2 ...
Stina Enqvist, Knut Sletten, Fred J Stevens, Ulf Hellman, Per Westermark   +4 more
doaj   +1 more source

Progression and prognostic significance of electrocardiographic findings in patients with cardiac amyloidosis

ESC Heart Failure, Volume 12, Issue 2, Page 809-818, April 2025.
Abstract Aims This study aimed to evaluate the change of the main electrocardiographic (ECG) characteristics and their prognostic role across the main subtypes of cardiac amyloidosis [light‐chain amyloidosis (AL) and hereditary (ATTRv) and wild‐type transthyretin amyloidosis (ATTRwt)].
Alessia Argirò, Mattia Zampieri, Carlotta Mazzoni, Carlo Fumagalli, Michela Baccini, Alessandra Mattei, Alberto Cipriani, Laura De Michieli, Aldostefano Porcari, Gianfranco Sinagra, Marco Merlo, Giacomo Tini, Beatrice Musumeci, Domitilla Russo, Pier Filippo Vianello, Marco Canepa, Roberto Licordari, Gianluca di Bella, Claudio Rapezzi, Federico Perfetto, Francesco Cappelli   +20 more
wiley   +1 more source

Prevalence of transthyretin cardiac amyloidosis in undifferentiated heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1176-1182, April 2025.
Abstract Aims Transthyretin amyloid cardiomyopathy (ATTR‐CM) is an increasinglyrecognized cause of heart failure with preserved ejection fraction (HFpEF), which may be diagnosed non‐invasively using 99mTc 3,3‐diphosphono‐1,2‐propanodicarboxylic acid (DPD) scintigraphy‐based diagnostic criteria.
L. Healy, G. Giblin, A. Gray, N. Starr, L. Murphy, D. O'Sullivan, E. Kavanagh, C. Howley, C. Tracey, E. Morrin, A. McDaid, A. Clarke, J.O. O'Neill, E. Joyce, M. O'Connell, N. G. Mahon   +15 more
wiley   +1 more source

A Case of Systemic Amyloidosis Diagnosed After Excision of a Cutaneous Tumour of the Buttocks

JEADV Clinical Practice, EarlyView.
ABSTRACT A 72‐year‐old Japanese man was referred to our hospital with two tumours on the buttocks. Two solitary, 2.5 × 1.5 cm‐sized, dark brown, well‐demarcated elevated plaques were observed, one on each side of the gluteal cleft, and dermoscopic examination showed comedo‐like openings, multiple milia‐like cysts, and a cerebriform pattern with ...
Tomomichi Shimizu, Hinako Chiba, Shinpei Hamasaki, Sho Arai, Tomomi Inomata, Ayako Hirota, Akio Kondo, Fumikazu Yamazaki, Yohei Masugi, Tomotaka Mabuchi   +9 more
wiley   +1 more source

Systemic Immunoglobulin Light Chain Amyloidosis Presenting as Painful Penile Ulcers

Annals of Internal Medicine: Clinical Cases, 2022
Immunoglobulin light chain (AL) amyloidosis is a systemic form of amyloidosis that commonly affects the heart, kidney, liver, and nervous system. Penile involvement in AL amyloidosis is rare and thus often not considered in the differential diagnosis for
Crystal Lihong Yan, Fireneh N. Beshah, Karen Eliahu, James E. Hoffman   +3 more
doaj   +1 more source

Charting the course of Sjögren's disease: A historical analysis of scientific progress

European Journal of Oral Sciences, EarlyView.
Abstract Sjögren's disease (SjD) bears the name of the Swedish ophthalmologist Henrik Sjögren. His 1933 doctoral thesis on keratoconjunctivitis sicca ignited interest, yet much remains under debate. SjD is an autoimmune disorder that primarily affects the exocrine glands, particularly the salivary and lacrimal glands, leading to a dryness of the eyes ...
Diego Ustárroz Cantali, Fabiola Reis de Oliveira, Denise Cantarelli Machado, Moisés Evandro Bauer   +3 more
wiley   +1 more source