Results 151 to 160 of about 47,631 (258)

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance. [PDF]

Genome Med
Beaumont RN, Hawkes G, Gunning AC, Wright CF.   +3 more
europepmc   +1 more source

“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

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease. [PDF]

J Clin Immunol
Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL.   +29 more
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

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition. [PDF]

Mol Cell Proteomics, 2019
Grabowski P, Hesse S, Hollizeck S, Rohlfs M, Behrends U, Sherkat R, Tamary H, Ünal E, Somech R, Patıroğlu T, Canzar S, van der Werff Ten Bosch J, Klein C, Rappsilber J.   +13 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

Preimplantation Genetic Testing for Monogenic Disease of Spinal Muscular Atrophy by Multiple Displacement Amplification: 11 unaffected livebirths. [PDF]

Int J Med Sci, 2019
Fu Y, Shen X, Wu H, Chen D, Zhou C.
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Lessons from studying monogenic disease for common disease [PDF]

Human Molecular Genetics, 2006
Leena, Peltonen, Markus, Perola, Jussi, Naukkarinen, Aarno, Palotie   +3 more
openaire   +2 more sources