Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature
GC Tolezano, GC Bastos, SS da Costa… - Journal of Autism and …, 2024 - Springer
Microcephaly presents heterogeneous genetic etiology linked to several
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …
Microcephaly Gene Mcph1 Deficiency Induces p19ARF-Dependent Cell Cycle Arrest and Senescence
YN Jiang, Y Gao, X Lai, X Li, G Liu, M Ding… - International Journal of …, 2024 - mdpi.com
MCPH1 has been identified as the causal gene for primary microcephaly type 1, a
neurodevelopmental disorder characterized by reduced brain size and delayed growth. As a …
neurodevelopmental disorder characterized by reduced brain size and delayed growth. As a …
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features
S Berland, CF Rustad… - Molecular …, 2021 - molecularcasestudies.cshlp.org
Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in
a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) …
a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) …
[HTML][HTML] CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
J Li, LN Chen, HL He - World Journal of Clinical Cases, 2023 - ncbi.nlm.nih.gov
BACKGROUND Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a cell proliferation
inhibitor that regulates the cell cycle and cell growth through G1 cell cycle arrest. CDKN1C …
inhibitor that regulates the cell cycle and cell growth through G1 cell cycle arrest. CDKN1C …
Imprinted lncRNA KCNQ1OT1 regulates CDKN1C expression through promoter binding and chromatin folding in pigs
Y Zhou, H Yu, D Zhang, Z Wang, Q Li, X An, S Zhang… - Gene, 2024 - Elsevier
Long noncoding RNAs (lncRNAs) are implicated in a number of regulatory functions in
eukaryotic genomes. In humans, KCNQ1OT1 is a 91 kb imprinted lncRNA that inhibits …
eukaryotic genomes. In humans, KCNQ1OT1 is a 91 kb imprinted lncRNA that inhibits …
Abundant Parent-of-origin Effect eQTL in Humans: The Framingham Heart Study
Parent-of-origin effect (POE) is a phenomenon whereby an allele's effect on a phenotype
depends both on its allelic identity and parent from whom the allele is inherited, as …
depends both on its allelic identity and parent from whom the allele is inherited, as …
Epigenetics in the classroom
K Makky - Rigor and Reproducibility in Genetics and Genomics, 2024 - Elsevier
Abstract In Section 4: Epigenetic analyses, students have learned about different methods of
epigenetic probing that can be undertaken and the crucial factors to be considered when …
epigenetic probing that can be undertaken and the crucial factors to be considered when …
[PDF][PDF] CDKN1C gene mutation causing familial Silver–Russell syndrome, with family pedigree
J Li, H He, L Chen - 2022 - scholar.archive.org
Background: CDKN1C is a cell proliferation inhibitor that regulates the cell cycle and cell
growth through G1 cell cycle arrest. CDKN1C mutations can lead to IMAGe syndrome …
growth through G1 cell cycle arrest. CDKN1C mutations can lead to IMAGe syndrome …
[HTML][HTML] IMAGe Syndrome Synonym: Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
SAS Vergano, MA Deardorff - europepmc.org
IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction
(IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary …
(IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary …