Insight into the ontogeny of GnRH neurons from patients born without a nose
A Delaney, R Volochayev, B Meader… - The Journal of …, 2020 - academic.oup.com
Context The reproductive axis is controlled by a network of gonadotropin-releasing hormone
(GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside …
(GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside …
CRISPR in dentistry: A boon or bane
M Garhnayak, S Rath, L Garhnayak… - Microbes and Infectious …, 2023 - mid.journals.ekb.eg
Background: Clustered Regularly Inter Spaced Palindromic Repeats (CRISPR) is
programmable protein that can change the genome's content, remove it, and switch it on and …
programmable protein that can change the genome's content, remove it, and switch it on and …
SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization
Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is
an epigenetic regulator that mediates gene expression silencing at targeted sites across the …
an epigenetic regulator that mediates gene expression silencing at targeted sites across the …
A Journey Through Genetics to Biology
V Van Heyningen - Annual Review of Genomics and Human …, 2022 - annualreviews.org
Although my engagement with human genetics emerged gradually, and sometimes
serendipitously, it has held me spellbound for decades. Without my teachers, students …
serendipitously, it has held me spellbound for decades. Without my teachers, students …
A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1
Variants in the gene SMCHD1, which encodes an epigenetic repressor, have been linked to
both congenital arhinia and a late-onset form of muscular dystrophy called …
both congenital arhinia and a late-onset form of muscular dystrophy called …
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci
EE Davis, R Balasubramanian… - Human molecular …, 2020 - academic.oup.com
Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of
reproductive phenotypes resulting from defects in the specification, migration and/or function …
reproductive phenotypes resulting from defects in the specification, migration and/or function …
Ubiquitous chromatin modifiers in congenital retinal diseases: implications for disease modeling and regenerative medicine
BW Basinski, DA Balikov, M Aksu, Q Li… - Trends in molecular …, 2021 - cell.com
Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma
(MAC) are associated with alterations in genes encoding epigenetic proteins that modify …
(MAC) are associated with alterations in genes encoding epigenetic proteins that modify …
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
JL Yang, H Gu, ZZ Yuan, XH Xie, YF Yang… - BMC Medical …, 2024 - Springer
Background Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic
disorder, predominantly autosomal dominant. It is a multi-system developmental disorder …
disorder, predominantly autosomal dominant. It is a multi-system developmental disorder …
[HTML][HTML] Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms
Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular
defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism …
defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism …
[HTML][HTML] Recursive motif analyses identify brain epigenetic transcription regulatory modules
DNA methylation is an epigenetic modification modulating the structure of DNA molecule
and the interactions with its binding proteins. Accumulating large-scale methylation data …
and the interactions with its binding proteins. Accumulating large-scale methylation data …