Results 141 to 150 of about 43,204 (229)

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Desmin’s conformational modulation by hydrophobicity

Türk Biyokimya Dergisi
Nucleocytoplasmic transport is one of the key features in regulation of cellular physiology. Developing a better understanding of the molecular mechanism underlying the nucleocytoplasmic shuttling of proteins can broaden our perspective and understanding
Kural Mangıt Ecem, Cevheroğlu Orkun, Dinçer Pervin   +2 more
doaj   +1 more source

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, Volume 16, Issue 9, Page 1691-1707, September 2026.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Assessment of myogenic potency in patient-derived fibroblasts with c.1289-2A>G Desmin mutation

Türk Biyokimya Dergisi
The ultra-rare DES c.1289-2A>G mutation, resulting in a 48-base pair insertion in the Desmin tail domain, is associated with late-onset MFM1 (myofibrillar myopathy-1; OMIM number; 601419) and exhibits distinctive pathological features.
Düz Nilüfer, Ünsal Şeyda, Eerdem-Özdamar Sevim, Dinçer Pervin   +3 more
doaj   +1 more source

MASH Background Confers Enhanced Disease Susceptibility and Acetaminophen Toxicity in iPSC‐Derived Liver Organoids

Advanced Science, Volume 13, Issue 53, 24 September 2026.
This work establishes a novel method for generating multicellular liver organoids from control and MASH donor iPSCs. The model recapitulates several disease‐specific characteristics, with MASH donor‐derived organoids showing higher susceptibility. Lipidomic profiling of MASH organoids closely resembles MASH liver biopsies.
Ekta Minocha, Ashwani Kumar Gupta, Nate Schmidt, Richard M. Green, John G. Purdy, Jason A. Wertheim   +5 more
wiley   +1 more source

BIN1 and ALDH1B1 Deficiency in Colonic Smooth Muscle Drives Mitochondrial Dysfunction and Fibrosis in Slow‐Transit Constipation

Advanced Science, Volume 13, Issue 50, 7 September 2026.
Slow‐transit constipation (STC) is a disabling motility disorder with unclear smooth‐muscle mechanisms. Spatial proteomic analysis of STC patient colon reveals both the central pathogenic role of smooth muscle cells (SMCs) in STC and novel regulators of intestinal motility, BIN1 and ALDH1B1.
Jianbo Liu, Hao Zhang, Wenhao Qiao, Ran Liu, Jie Sun, Xiaopei Li, Qin Li, Dongbo Zhao, Dawei Chen, Jingxin Li, Shuxiao Dong   +10 more
wiley   +1 more source

Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects multiple organ systems, most commonly the skin, peripheral nerves, and skeletal system. However, involvement of the anterior mediastinum is rare and has been sporadically reported in the literature.
Yuhao Qi, Shenghai Wang, Zhaokun Sun, Jianhua Du, Jun Li   +4 more
wiley   +1 more source

Plantar Angioleiomyoma Masquerading as a Hyperkeratotic Lesion: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Plantar angioleiomyoma may mimic a refractory hyperkeratotic lesion such as a corn. Progressive enlargement, persistent weight‐bearing pain, and failure of keratolytic therapy should prompt further evaluation. Doppler ultrasonography can help identify a deep vascular tumor and guide definitive excision, and histopathological examination ...
Jiandi Wang, Tingting Zhao, Qu Liu, Jun Song   +3 more
wiley   +1 more source

Giant Primary Ovarian Leiomyoma Mimicking Ovarian Malignancy in an Elderly Postmenopausal Woman: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Ovarian leiomyomas, either primary or parasitic in origin, are exceptionally rare and account for about 0.5% to 1% of all benign ovarian tumors. They often pose a diagnostic challenge, particularly in postmenopausal women, as they can clinically and radiologically mimic ovarian malignancy.
John Lugata, Nasra Batchu, Onesmo Mrosso, Jaynes Kabuhaya, Esther Pinches, Glory Maringo, Eusebious Maro, Bariki Mchome, Alex Mremi   +8 more
wiley   +1 more source

Genetic and pathophysiological study of desmin derangements in cardiac disorders

, 2007
Desmin is a chief intermediate filament of skeletal and cardiac muscle. Its main function is to provide structural and functional integrity to the cell and to transmit tension along the myofibrils, protecting them from mechanical stress during ...
Anna Kostareva (735308)
core   +1 more source