Results 211 to 220 of about 56,699 (250)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts. [PDF]

Hum Mol Genet
Petrin AL, Awotoye W, Spencer CE, Machado-Paula LA, Hovey L, Keen H, Chimenti M, Breheny P, Qian F, Dabdoub S, Thomas JC, Butali A, Murray JC, Venugopalan SR, Moreno-Uribe LM.   +14 more
europepmc   +1 more source

Expanding the genetic landscape of <i>SLC4A1</i>-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis. [PDF]

Front Genet
More TA, Kedar PS.
europepmc   +1 more source

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

Annals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring, Enya Abler, Jakub Vavra, Kristina Mayer, Johannes Dorst, Zeynep Elmas, Maximilian Wiesenfarth, Lars Richter, Susanne Petri, Martin Regensburger, Peter Reilich, Bogdan Bjelica, Rea Lumi, Patrick Süß, Hayrettin Tumani, Markus Otto, Jochen H. Weishaupt, Albert C. Ludolph, Patrick Oeckl   +18 more
wiley   +1 more source

Potential Contribution of <i>DES</i> (p.Leu88Met) and <i>MYH7</i> (p.Arg787His) Variants to Familial Restrictive Cardiomyopathy. [PDF]

Cardiol Res Pract
Bagherimoghaddam M, Kalayinia S, Fazelifar AF, Jalilian M, Taghavi S, Khajali Z, Maleki M, Amin A, Malakootian M.   +8 more
europepmc   +1 more source

In Vivo Nb4C3Tx MXene‐Assisted Photothermal Therapy of Melanoma in Mice

Advanced NanoBiomed Research, EarlyView.
Nb4C3Tx MXene converts pulsed 1064 nm irradiation into localized heat, producing concentration‐ and time‐dependent melanoma cell killing in vitro and suppressing tumor growth in mice. Histology reveals extensive tumor damage, macrophage‐associated material clearance, and no detectable persistent deposits in examined visceral organs, supporting Nb4C3Tx ...
Anton Roshchupkin, Benjamin Chacon, Gulnaz Gahramanova, Inna Chorna, Zhanna Klishchova, Anastasia Konieva, Ilya Yanko, Andrii Liutyi, Milena Yalyzhko, Ivan Baginskiy, Veronika Zahorodna, Júlio Sílvio de Sousa Bueno Filho, Erfan Rezvani Ghomi, Igor Panko, Tetiana Shapochka, Oksana Sulaieva, Oleksandr Solodovnyk, Lucia Gemma Delogu, Oleksiy Gogotsi, Laura Fusco, Sergiy Kyrylenko, Yury Gogotsi, Maksym Pogorielov   +22 more
wiley   +1 more source

Variable Expressiveness of a Novel Pathogenic <i>SETD1A</i> Missense Variant Linked to FLOS Domain Haploinsufficiency in a Mexican Pedigree. [PDF]

Diseases
Huerta LMG, Sánchez MÁF, Velázquez ME, López JT.   +3 more
europepmc   +1 more source

Covalent Immobilisation of PVA‐MA Hydrogels on Plasma‐Activated Coatings: Achieving Superior Adhesion by Reagent‐Free Formation of a Nanoscale Primer Layer

Advanced NanoBiomed Research, EarlyView.
Robust attachment of hydrogels to solid substrates is critical to success in cell culture where hydrostatic and contractile forces can contribute to delamination of weakly adhered gels. This novel approach forms a nanometer‐scale, reagent‐free hydrogel primer layer to provide improved resistance to delamination of subsequent bulk hydrogel layers in a ...
Sophia C. Franklin, Clara T. H. Tran, Matthew Hadden, David Martinez‐Martin, Laura Poole‐Warren, Marcela M. M. Bilek, Ulises Aregueta Robles, Aaron D. Gilmour   +7 more
wiley   +1 more source

Simple Superior Inverted Flap Technique with Extended Internal Limiting Membrane Peeling for the Treatment of Large Macular Holes. [PDF]

Clin Ophthalmol
Bajdik B, Kemenes G, Jain V, Noronha KM, Fodor M, Takács L.   +5 more
europepmc   +1 more source

Functionalization and Metal Ion Encapsulation Within a Triaxial Supramolecular Weave

Angewandte Chemie, EarlyView.
The functionalization of a triaxially woven supramolecular weave was achieved. Pre‐assembly modification of the peptide‐perylene monoimide building block enabled facile and homogeneous introduction of acetyl, pivaloyl and thiophene moieties throughout the assembly without disrupting the woven structure.
Andreas Herdlitschka, Tatiana Da Silva‐Ferreira, Joseph F. Woods, Man Him Chak, Elisabeth Engelsberger, Bartosz Lewandowski, Helma Wennemers   +6 more
wiley   +1 more source