Results 171 to 180 of about 111,505 (240)

An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in "Blonde d'Aquitaine" calves. [PDF]

BMC Vet Res
Floriot S, Fritz S, Herry V, Beauvallet C, Boussaha M, Egidy G, Duchesne A, Vilotte M, Cadiergues MC, Boichard D, Schelcher F, Vilotte JL.   +11 more
europepmc   +1 more source

Dried biofluid droplet morphologies for automated and scalable disease classification

Droplet, EarlyView.
For the first time, disease‐specific fingerprints of diabetes and influenza are revealed from dried biofluid droplet morphologies. Using automated droplet detection, texture analysis, and interpretable machine learning, this scalable workflow transforms endpoint droplet patterns into diagnostic biomarkers for point‐of‐care healthcare applications ...
Anusuya Pal, Piyush Thakur, Amalesh Gope, Ryuta Uraki, Kawaoka Yoshihiro, Miho Yanagisawa   +5 more
wiley   +1 more source

Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations. [PDF]

J Thromb Haemost
Liu Z, Srivastava V, Hussain A, Zhang B.
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup. [PDF]

Mol Genet Metab Rep
Arafa NA, Mahfouz A, Anwar S, Marzouk I.
europepmc   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Exploring the Spatial Dynamics of a Just Regional Energy Transition: What If We Ask Citizens?

Environmental Policy and Governance, EarlyView.
ABSTRACT The installation of wind turbines and solar parks in valued rural landscapes has led to local concerns and perceived injustices to the extent that the societal acceptance of the energy transition is at stake. Although the literature on energy justice is blooming, research into citizens' understandings of justice with regards to regional energy
Simone Haarbosch, Sanneke Kloppenburg, Bas Van Vliet, Tamara Metze   +3 more
wiley   +1 more source

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source

CardiLect: A combined cross‐species lectin histochemistry protocol for the automated analysis of cardiac remodelling

ESC Heart Failure, Volume 12, Issue 2, Page 1398-1415, April 2025.
Abstract Background Cardiac remodelling, a crucial aspect of heart failure, is commonly investigated in preclinical models by quantifying cardiomyocyte cross‐sectional area (CSA) and microvascular density (MVD) via histological methods, such as immunohistochemistry.
Tamás G. Gergely, Tamás Kovács, Andrea Kovács, Viktória E. Tóth, Nabil V. Sayour, Gábor M. Mórotz, Csenger Kovácsházi, Gábor B. Brenner, Zsófia Onódi, Balázs Enyedi, Domokos Máthé, Przemyslaw Leszek, Zoltán Giricz, Péter Ferdinandy, Zoltán V. Varga   +14 more
wiley   +1 more source

Novel loss-of-function <i>SPAG</i>17 homozygous variant segregated in a family with severe asthenozoospermia: upgrading gene-disease validity to strong. [PDF]

Front Endocrinol (Lausanne)
Wang L, Li J, Huang L, Wang J, Zhou L, Ding L, Li J, Zhang Q, Zhang J, Xie G.   +9 more
europepmc   +1 more source