Results 41 to 50 of about 1,225,648 (255)

Neutralization of the PTX3/CD44 axis suppresses TGF‐β1 signaling in kidney fibrosis

FEBS Letters, EarlyView.
This study investigates how the PTX3/CD44 axis promotes kidney fibrosis by activating TGF‐β1 signaling. We demonstrate that the neutralizing antibody WHC‐001 effectively inhibits this pathway, suppressing myofibroblast activation and partial epithelial–mesenchymal transition (EMT).
Chao‐Chun Cheng, Shen‐Shin Chang, Feng‐Wei Chen, Ying‐Chieh Su, Thanh Phuong Nguyen, Yu‐Wei Hsiao, Jhih‐Ying Chi, Hsin‐Yin Liang, Ju‐Ming Wang   +8 more
wiley   +1 more source

Piebaldism: A brief report and review of the literature

Indian Dermatology Online Journal, 2012
Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules.
Saurabh Agarwal, Amit Ojha
doaj   +1 more source

Soft motions encoded by the fold and mediated by conserved hinge sites drive V‐ATPase allosteric machinery and autoinhibition

FEBS Letters, EarlyView.
Vacuolar H+‐ATPase (V‐ATPase) is a multisubunit rotary proton pump that acidifies intracellular compartments. Using elastic network models, we identified conserved hinge residues that govern its large‐scale functional motions. We show that intrinsically encoded ‘soft modes’ drive critical functional transitions, including rotary catalysis and ...
Diksha Parwana, Xiaowei Bogetti, Stuti Sharma, Ivet Bahar   +3 more
wiley   +1 more source

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

CRISPR/Cas therapeutic strategies for autosomal dominant disorders

The Journal of Clinical Investigation, 2022
Autosomal dominant disorders present unique challenges, as therapeutics must often distinguish between healthy and diseased alleles while maintaining high efficiency, specificity, and safety.
Salvatore Marco Caruso, Peter M.J. Quinn, Bruna Lopes da Costa, Stephen H. Tsang   +3 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease: Review and Management Update [PDF]

, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited nephropathy. Initially, it is characterised by the growth of renal cysts. Later, progressive deterioration of renal function determines the prognosis of ADPKD, depending on
Víctor Martínez
core  

PKD1 (polycystic kidney disease 1 (autosomal dominant)) [PDF]

, 2012
Review on PKD1 (polycystic kidney disease 1 (autosomal dominant)), with data on DNA, on the protein encoded, and where the gene is ...
Rennert, H, Tan, YC
core   +1 more source

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source