Results 71 to 80 of about 46,029 (270)

Tuberous sclerosis complex—varied presentations in family clusters

Indian Journal of Dermatology, 2023
Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body.
Ayush Sopori, Seema Sharma, Kavya Sharma, Milap Sharma   +3 more
doaj   +1 more source

Epcoritamab for Relapsed/Refractory EBV+ Post‐Transplant Lymphoproliferative Disorder of DLBCL‐Type

eJHaem, Volume 6, Issue 6, December 2025.
Abstract Background Patients with relapsed/refractory post‐transplant lymphoproliferative disorder (R/R PTLD) following solid‐organ transplants (SOT) or hematopoietic stem cell transplants (HSCT) after frontline chemoimmunotherapy have dismal outcomes.
Li Yuan Chan, Simon O'Connor, Dima El‐Sharkawi, Sunil Iyengar   +3 more
wiley   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C, Kruger, Samantha L, Shillingford, Jonathan M, Torres, Jacob, Weimbs, Thomas   +4 more
core   +1 more source

The Genetic Blueprint of Obesity: From Pathogenesis to Novel Therapies

Obesity Reviews, Volume 26, Issue 12, December 2025.
ABSTRACT Obesity is a chronic metabolic disease characterized by disturbances in energy homeostasis, leading to excessive fat accumulation. The pathogenesis of the disease is shaped by a complex interplay of genetic, epigenetic, biological, psychological, and environmental factors.
Gašper Tonin, Stjepan Eržen, Zala Mlinarič, Dubravka Jurišić Eržen, Simon Horvat, Tanja Kunej, Jasna Klen   +6 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease

Pediatric nephrology (Berlin, West), 2021
M. Cadnapaphornchai, D. Mekahli
semanticscholar   +2 more sources

T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease [PDF]

, 2017
Purpose: In ADPKD patients total kidney volume (TKV) measurement using MRI is performed to predict rate of disease progression. Historically T1 weighted images (T1) were used, but the methodology of T2 weighted imaging (T2) has evolved.
A. Lianne Messchendorp, Gert J. ter Horst, Maatje D. A. van Gastel, Marissa de Jong, Merel A. Kaatee, null null, Peter Kappert, Remco J. Renken, Ron T. Gansevoort, Shekar V. K. Mahesh   +9 more
core   +1 more source

Polycystin‐1 Mutant Alters Mechanotransduction in Response to Collagen and Extracellular Matrix Stiffness via Daam1‐Dependent Microfilament Remodeling

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Polycystin‐1 (PC1) senses collagen and ECM stiffness to promote tumor migration via Daam1‐mediated actin remodeling. A cleavage‐resistant PC1 mutant enhances YAP nuclear translocation and CTGF expression, which activates CAFs and further stiffens the ECM, forming a feed‐forward loop that drives tumor progression and metastasis.
Jiaofeng Zhou, Yibing Deng, Jie Mei, Mengyun Wan, Ningyi Xue, Xinyu Zong, Ji Zhou, Junli Ding, Ting Yan, Yu Jiang, Tiansong Xia, Peng Zheng, Yichao Zhu   +12 more
wiley   +1 more source

Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease

Journal of Ultrasonography, 2013
Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska, Anna Plewa   +1 more
doaj  

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Intracranial aneurysms in autosomal dominant polycystic kidney disease [PDF]

Kosin Medical Journal
Background The incidence of intracranial aneurysms (ICA) is high in patients with autosomal dominant polycystic kidney disease (ADPKD). However, little is known regarding the optimal screening and treatment methods for ICA.
Jung Hyun Park
doaj   +1 more source