Results 181 to 190 of about 68,329 (260)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Advances in the Treatment of Autosomal Dominant Polycystic Kidney Disease and Novel Therapeutic Targets. [PDF]

Curr Issues Mol Biol
Zhang W, Sun T, Wang X, Jiang T.
europepmc   +1 more source

Preoperative Avapritinib for Localized PDGFRA‐Mutant GIST: Marked Pathologic Response, but Limited Feasibility at Standard Dosing

Cancer Medicine, Volume 15, Issue 8, August 2026.
In this two‐center retrospective series of eight patients with localized PDGFRA‐mutant gastric GIST treated with preoperative avapritinib, therapy produced substantial antitumor activity, including tumor reduction in 7 of 8 patients and complete or near‐complete pathologic response in all resected patients.
Tannaz Ranjbarian, Mark Antkowiak, Shirley Sarno, Shumei Kato, Adam M. Burgoyne, Skye C. Mayo, Michael C. Heinrich, Paul T. Fanta, Jason K. Sicklick   +8 more
wiley   +1 more source

Molecular echoes of mucus plugging in chronic obstructive pulmonary disease. [PDF]

Am J Respir Crit Care Med
O'Neal WK, Boucher RC.
europepmc   +1 more source

Clinical characteristics and follow‐up of 77 patients with pathogenic fumarate hydratase variants

BJU International, Volume 138, Issue 3, Page 397-399, September 2026.
Matthijs Duijn, Aline M. Tijans, R. Jeroen A. van Moorselaar, Marjoleine F. Broekema, Marleen E. de Lange, Emiel D. Post Uiterweer, Marilyne M. Lange, Naomi Donner, Markus V. Starink, Antoinette Hollestelle, Liselotte P. van Hest, Femke Struik, Patricia J. Zondervan   +12 more
wiley   +1 more source

Tuberous Sclerosis Complex (Bourneville‐Pringle Disease) With Congenitally Right Solitary Kidney in a 14‐Year‐Old Male Adolescent

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT The coexistence of tuberous sclerosis complex (TSC) with a congenital solitary kidney is exceptionally rare and worsens prognosis. This combination increases the risk of renal failure, requiring meticulous monitoring, tailored surveillance, and renal preservation strategies.
Animaw Lingerew Dagnaw, Asressie Mamo Alemayehu, Gebre Hailu Dejen, Astarkew Alene Abejehu, Kindye Wale Kassie   +4 more
wiley   +1 more source

TLR2 Activation Enhances Inflammatory Signaling and Accelerates Cyst Growth and Renal Fibrosis in Polycystic Kidney Disease Mice. [PDF]

Int J Mol Sci
Wei A, Zhang Y, Xu Y, Schneider J, Detterman N, Shu X, Gregersen T, Folch MN, Li Y, Chen S, Zhang Y.   +10 more
europepmc   +1 more source

Obstructive Pyelonephritis Secondary to Ureteral Compression by an Intra‐Abdominal Desmoid Tumor in Familial Adenomatous Polyposis: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT In patients with familial adenomatous polyposis, intra‐abdominal desmoid tumors should be recognized as a rare but important cause of ureteral obstruction and obstructive pyelonephritis. Prompt cross‐sectional imaging, early recognition, and multidisciplinary management are essential for preserving renal function, treating infection, and ...
Alireza Mehrban, Mehdi Karimi, Mohammad Taghi Hamidian, Mahdi Masoumi, Elahe Tari Najarkolaei, Abdolreza Babamahmoodi   +5 more
wiley   +1 more source

Development of plant‐derived biomimetic nanoparticles as a novel targeted drug delivery platform

Clinical and Translational Discovery, Volume 6, Issue 4, August 2026.
Plant‐derived biomimetic nanoparticles (PD‐BNPs) represent a sustainable and biocompatible nanoplatform for targeted drug delivery. This review highlights their therapeutic potential, engineering strategies, and translational challenges toward precision nanomedicine applications. Abstract Plant‐derived biomimetic nanoparticles (PD‐BNPs) have emerged as
Jihad Hasan, Asnaf Nihan Shuvo, Md. Rezaul Karim Sheikh, A. Nayeem Faruqui   +3 more
wiley   +1 more source

A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B. [PDF]

CEN Case Rep
Sugimoto H, Sawa N, Oba Y, Mizuno H, Sekine A, Yamanouchi M, Tanaka K, Hasegawa E, Suwabe T, Wada T, Yokoyama T, Miki K, Nakamura Y, Ishii Y, Kono K, Ohashi K, Takazawa Y, Fujimaru T, Mori T, Sohara E, Ubara Y.   +20 more
europepmc   +1 more source