Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
Brain malformations and seizures by impaired chaperonin function of TRiC
F Kraft, P Rodriguez-Aliaga, W Yuan, L Franken, K Zajt… - Science, 2024 - science.org
Malformations of the brain are common and vary in severity, from negligible to potentially
fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the …
fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the …
[HTML][HTML] Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant
Y Hu, P Lauffer, A Jongejan, K Falize, E Bruinstroop… - Gene, 2024 - Elsevier
Transducin β-like 1 X-linked receptor 1 (mouse Tbl1xr1) or TBL1X/Y related 1 (human
TBL1XR1), part of the NCoR/SMRT corepressor complex, is involved in nuclear receptor …
TBL1XR1), part of the NCoR/SMRT corepressor complex, is involved in nuclear receptor …
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype
E Karatas, A Gulec, M Korkmaz, ZF Karaman, A Kiraz… - Neurogenetics, 2025 - Springer
In most cases there is a single etiological factor causing neuromotor developmental delay
and epilepsy while sometimes more than one gene may be involved. These include the …
and epilepsy while sometimes more than one gene may be involved. These include the …
[HTML][HTML] Invertebrate model organisms as a platform to investigate rare human neurological diseases
JH Lee - Experimental Neurobiology, 2022 - ncbi.nlm.nih.gov
Patients suffering from rare human diseases often go through a painful journey for finding a
definite molecular diagnosis prerequisite of appropriate cures. With a novel variant isolated …
definite molecular diagnosis prerequisite of appropriate cures. With a novel variant isolated …
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
SM Fielder, JA Rosenfeld, LC Burrage, L Emrick… - Molecular genetics and …, 2022 - Elsevier
We describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who
presented with microcephaly, developmental delay, and refractory epilepsy with a de novo …
presented with microcephaly, developmental delay, and refractory epilepsy with a de novo …
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review
Z Pan, C Chen, F Yin, J Peng - World Journal of Pediatrics, 2022 - Springer
NBEA (MIM# 604,889) is a novel disease causative gene that responds for
neurodevelopment disorder with or without generalized epilepsy (NEDEGE, MIM# 619,157) …
neurodevelopment disorder with or without generalized epilepsy (NEDEGE, MIM# 619,157) …
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M Haller, Y Yin, G Haller, T Li, Q Li - development, 2024 - digitalcommons.wustl.edu
Results Generation of An In Vivo Model Utilizing SpDam Technology to Map the Genital AR
Network. Ideally, the murine model would be both amenable to tissue-specific and …
Network. Ideally, the murine model would be both amenable to tissue-specific and …