Results 261 to 270 of about 556,889 (346)

Phase Separation: A New Dimension to Understanding Tumor Biology and Therapy

MedComm – Oncology, Volume 4, Issue 2, June 2025.
Liquid–liquid phase separation (LLPS) facilitates the assembly of biomolecular condensates by leveraging weak multivalent interactions. The low‐complexity domains, foldable domains of proteins, and nucleic acids provide multivalent interaction sites among different molecules and contribute to the formation of condensates.
Xingwen Wang, Minqiao Lu, Yi Zhang, Jiangwen Ma, Ying Hu   +4 more
wiley   +1 more source

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV [PDF]

Haley Crane, Stephanie Asher, Laura Conway, Theodore G. Drivas, Staci Kallish   +4 more
openalex   +1 more source

Obesity‐related early structural alterations in the retina detected by optical coherence tomography

Diabetes, Obesity and Metabolism, Volume 27, Issue 6, Page 3262-3273, June 2025.
Abstract Aims This retrospective cross‐sectional study, using retinal spectral‐domain optical coherence tomography (SD‐OCT) scans, investigated obesity‐related structural alterations in the retina. Materials and Methods Ninety‐two eyes of 92 healthy asymptomatic participants were categorized into two groups based on body mass index (BMI) measurements ...
Maide Gözde İnam, Onur İnam, Doru Gucer, James Park, Yasseen Amellal, Tongalp H. Tezel, Gülgün Tezel   +6 more
wiley   +1 more source

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease. [PDF]

Clin Transl Med
Weiss L, Carrer M, Shmara A, Martin A, Yin H, Pal P, Cheng C, Ta L, Boock V, Fazeli Y, Chang M, Paguio M, Lee J, Yu H, Weiss J, Grossman TR, Raben N, Jafar-Nejad P, Kimonis V.   +18 more
europepmc   +1 more source

Lamellarin D Acts as an Inhibitor of Type I Collagen Production

ChemMedChem, Volume 20, Issue 9, May 5, 2025.
COL1A2 gene, encoding type I collagen, is a key target for pulmonary fibrosis. We established a screening system to identify small molecules that inhibit COL1A2 gene expression. Using this system, we screen a library of compounds and identify lamellarin D as a potent inhibitor of COL1A2 expression, suggesting lamellarin D is a promising new lung ...
Daisuke Okuno, Noriho Sakamoto, Hideki Hayashi, Tsutomu Fukuda, Yoshiko Akiyama, Chiaki Iketani, Ritsuko Murakami, Takatomo Tokito, Takuto Miyamura, Hirokazu Yura, Takashi Kido, Hiroshi Ishimoto, Shinnosuke Takemoto, Takahiro Takazono, Tomoya Nishino, Yuji Ishimatsu, Jun Ishihara, Kohsuke Takeda, Yoshimasa Tanaka, Hiroshi Mukae   +19 more
wiley   +1 more source

Transplantation and other aspects of surgery of the liver [PDF]

, 1984
Iwatsuki, S, Shaw, BW, Starzl, TE, Van Thiel, DH   +3 more
core  

Identification of a Founder GLDN Variant Associated With “Lethal” Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with ...
Alexa McAdam, Yoko A. Ito, Marilyn Richard, Dan Spiegelman, Daniel Rochefort, Lan Xiong, Maryam Oskoui, David Zielinski, Guy A. Rouleau, Sirui Zhou, Care4Rare Canada Consortium, Kym M. Boykott, Isabelle De Bie   +12 more
wiley   +1 more source

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients.
Silvia Kalantari, Daniele Veraldi, Davide Politano, Antonia Apicella, Riccardo Castagnoli, Thomas Foiadelli, Fulvio D'Abrusco, Elisa Giorgio, Angela Berardinelli, Alessia Claudia Codazzi, Gianluigi Marseglia, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

BMC Med Genomics
Kasmi Z, Ain El Hayat I, Aadam Z, Errami A, Benhsaien I, El Bakkouri J, Ben Sabbahia D, Atrassi M, Bousfiha AA, Ailal F.   +9 more
europepmc   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source