Results 141 to 150 of about 35,482 (247)

“Yet the Problem Remains”: Why Genetic Determinism Still Haunts Biomedical Research

Bioethics, EarlyView.
ABSTRACT After the horrors of the Holocaust and its connections to eugenics were revealed to the world, many post‐war population geneticists sought to establish rhetorical distance from the Nazi's state‐led campaigns, without abandoning their belief that actively shaping the population's genetics would produce a prosperous society.
Christopher R. Donohue, Ian A. Myles
wiley   +1 more source

geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders. [PDF]

Mol Genet Genomic Med
Zhang J, Liu D, Chen M, Fang Y, Dai K, Zhu X, Xu Q, Hou M, Wang L, Wang J, Zhang J, Liang B, Teng X.   +12 more
europepmc   +1 more source

When Development of the Alveolar Gas Exchange Unit Fails: Universal Single-Cell Lessons from Rare Monogenic Disorders. [PDF]

Am J Respir Crit Care Med, 2023
Schupp JC, Kaminski N.
europepmc   +1 more source

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort

British Journal of Haematology, EarlyView.
Targeted next‐generation sequencing combined with a structured interpretative framework integrating gene–disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying ...
Alessandra Giannella, Fabrizio Vianello, Simone Zoletto, Arianna Magrini, Ilaria Gianesello, Gianni Binotto, Nicolo’ Danesin, Jessica Ceccato, Giulia Gualtiero, Maria Piazza, Samuela Carraro, Valeria Carabotta, Francesco Cinetto, Alessandro Cellini, Marco Carraro, Carmela Gurrieri, Laura Pavan, Francesco Piazza, Andrea Visentin, Walter Ageno, Livio Trentin, Giulio Ceolotto   +21 more
wiley   +1 more source

Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report. [PDF]

F S Rep
Gemmell LC, Galloway S, Rembisz K, Snider A, Nassab P, Sanz ACC, Wolfkamp M, Koustas G, Karipcin S.   +8 more
europepmc   +1 more source

Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study. [PDF]

Mol Genet Genomic Med, 2022
Gall BJ, Smart TB, Munch R, Kolluri S, Tadepally H, Lim KPH, Demko ZP, Benn P, Souter V, Sanapareddy N, Keen-Kim D.   +10 more
europepmc   +1 more source

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population. [PDF]

Hum Genomics
Hao N, Lü Y, Bian J, Yin K, Xiao R, Hu P, Peng Y, Huang M, Qiao F, Xiao R, Liu Y, You Y, Jiang Y.   +12 more
europepmc   +1 more source

The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping. [PDF]

J Assist Reprod Genet, 2023
Chen C, Shi H, Niu W, Bao X, Yang J, Jin H, Song W, Sun Y.   +7 more
europepmc   +1 more source

Lewy bodies are surrounded by granulovacuolar degeneration bodies in dementia with Lewy bodies

Brain Pathology, EarlyView.
Here, we report Lewy bodies (LBs) to be enriched for tau‐laden granulovacuolar degeneration bodies (GVBs), suggesting a potential mechanistic interface between α‐synuclein and tau pathology in dementia with Lewy bodies (DLB). Abstract Lewy bodies (LBs), composed primarily of aggregated α‐synuclein (α‐syn), are the pathological hallmark of Lewy body ...
Searlait Thom, Pawel Palmowski, Andrew Porter, Joe O'Neill, Johannes Attems, Laura A. Smith, Viktor I. Korolchuk, Daniel Erskine   +7 more
wiley   +1 more source

Proteostasis disruption and lipid dyshomeostasis in neurodegeneration: exploring common druggable targets across sporadic and monogenic disorders. [PDF]

Front Mol Neurosci
Pereira Sena P, Friedrich L, Villarreal A, Fath F, Sopco L, Hernández-Guillamon M, Saraiva-Pereira ML, Britton G, Weber JJ, Schmidt T.   +9 more
europepmc   +1 more source