PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023‏ - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Structure of the human core transcription-export complex reveals a hub for multivalent interactions

T Pühringer, U Hohmann, L Fin, B Pacheco-Fiallos… - elife, 2020‏ - elifesciences.org
The export of mRNA from nucleus to cytoplasm requires the conserved and essential
transcription and export (TREX) complex (THO–UAP56/DDX39B–ALYREF). TREX …

Genome sequencing as a diagnostic test in children with unexplained medical complexity

G Costain, S Walker, M Marano, D Veenma… - JAMA Network …, 2020‏ - jamanetwork.com
Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …

[HTML][HTML] Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

A Riera-Escamilla, M Vockel, L Nagirnaja… - The American Journal of …, 2022‏ - cell.com
Although the evolutionary history of the X chromosome indicates its specialization in male
fitness, its role in spermatogenesis has largely been unexplored. Currently only three X …

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

R Bhattacharjee, LA Jolly, MA Corbett, IC Wee… - Nature …, 2024‏ - nature.com
We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the
highly-conserved TREX (Tr anscription-Ex port) complex, in a clinically complex …

Analgesic targets identified in mouse sensory neuron somata and terminal pain translatomes

MA Bangash, C Cubuk, F Iseppon, R Haroun, C Garcia… - Cell Reports, 2024‏ - cell.com
The relationship between transcription and protein expression is complex. We identified
polysome-associated RNA transcripts in the somata and central terminals of mouse sensory …

LncRNA Pnky Positively Regulates Neural Stem Cell Migration by Modulating mRNA Splicing and Export of Target Genes

J Du, Y Li, Y Su, W Zhi, J Zhang, C Zhang… - Cellular and Molecular …, 2023‏ - Springer
Directed migration of neural stem cells (NSCs) is critical for embryonic neurogenesis and the
healing of neurological injuries. The long noncoding RNA (lncRNA) Pnky has been reported …

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

B Kunisetty, BA Martin-Giacalone… - … & Visual Science, 2024‏ - iovs.arvojournals.org
Purpose: A molecular diagnosis is only made in a subset of individuals with nonisolated
microphthalmia, anophthalmia, and coloboma (MAC). This may be due to underutilization of …

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

KTA Booth, SV Jangam, MMC Chui, K Treat, L Graziani… - medRxiv, 2023‏ - medrxiv.org
DDX39B is a member of the DEAD-box family of ATP-dependent RNA helicases. DEAD-box
proteins are ubiquitously expressed from yeast to humans and perform essential functions …

[Retracted] Integrated Analysis of the Roles of RNA Binding Proteins and Their Prognostic Value in Clear Cell Renal Cell Carcinoma

B Wang, H Zhao, S Ni, B Ding - Journal of Healthcare …, 2021‏ - Wiley Online Library
Background and Purpose. The renal cell carcinoma is one of the main malignant tumors in
the genitourinary system, which seriously affects human health. Unregulated expression of …