Results 171 to 180 of about 80,761 (229)

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, Volume 209, Issue 1, Page 75-83, July 2026.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Rap1-mediated steric hindrance protects telomeres from MRX sensing. [PDF]

Nat Struct Mol Biol
Mattarocci S, Reginato G, Cannavo E, Roisné-Hamelin F, Gnügge R, Deshayes A, Pobiega S, Alibert O, Morin V, Ropars V, Mehringer J, Geli V, Cuniasse P, Charbonnier JB, Symington LS, Cejka P, Marcand S.   +16 more
europepmc   +1 more source

Beyond Starch: Towards a Scalable Potato Platform for Molecular Farming

Plant Biotechnology Journal, Volume 24, Issue 7, Page 4619-4639, July 2026.
Re‐engineering potato as a biosafe and host‐optimised platform for plant molecular farming by integrating intrinsic biological traits with targeted engineering strategies. ABSTRACT Thirty‐five years after the first recombinant protein was produced in potato and 30 years after clinical trials of edible vaccines from its tubers, the crop is being ...
Izabela Anna Chincinska, Dorota Sołtys‐Kalina, Audrey Y.‐H. Teh   +2 more
wiley   +1 more source

Ascertainment Bias in Cattle SNP Arrays and Implications for Multibreed Genomic Predictions. [PDF]

Anim Genet
Warburton CL, Hayes BJ.
europepmc   +1 more source

Development and validation of a quantitative pcr array assay for the detection of viral sequences in breast cancer. [PDF]

J Genet Eng Biotechnol
Del Carmen Trujillo-Murillo K, Lugo-Trampe A, Rodríguez-Sánchez IP, Martínez-Fierro ML, Cordero-Chaclan C, Tafurt-Cardona Y, Pérez PM, de Jesús Joo-Domínguez A, De la Cruz-Calderón R, Espinoza-Ruiz M, Chang-Rueda C, Lee-Faviel FC.   +11 more
europepmc   +1 more source

CpGene: a web application for epigenetic signature identification from DNA methylation arrays. [PDF]

Bioinformatics
Lazaros K, Logotheti S, Logothetis C, Tzelepi V, Vlamos P, Vrahatis AG.   +5 more
europepmc   +1 more source

Single-Molecule Chemistry Part II: Pathway Analysis of the Oxidation of Guanine to 8-Oxo-7,8-dihydroguanosine in an Oligonucleotide Hybrid. [PDF]

Molecules
Sobek J, Schmidt M, Landgraf S, Fleming A, Kawai K, Schlapbach R.   +5 more
europepmc   +1 more source

Automated Online Direct mRNA Sequence Mapping Using Partial RNase T1 Digests. [PDF]

Anal Chem
Dale JS, Welbourne EN, Evans CA, Minshull TC, Schwahn AB, Rupprecht F, Cook K, Loveday KA, Kis Z, Dickman MJ.   +9 more
europepmc   +1 more source

Electric field-guided random-access DNA data storage. [PDF]

Sci Adv
Lim D, Kang T, Lee W, Haider Z, Noh S, Yu M, Huang X, Eun HS, Song Y.   +8 more
europepmc   +1 more source

Target discrimination and PAM profiling of the Thermotoga maritima type I-B CRISPR system. [PDF]

Biochem J
Mallon J, Lenihan CJ, Shridhar S, Bailey S.   +3 more
europepmc   +1 more source