A track record on SHOX: from basic research to complex models and therapy
A Marchini, T Ogata, GA Rappold - Endocrine Reviews, 2016 - academic.oup.com
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …
miRWalk database for miRNA–target interactions
H Dweep, N Gretz, C Sticht - RNA mapping: methods and protocols, 2014 - Springer
Abstract miRWalk (http://mirwalk. uni-hd. de/) is a publicly available comprehensive
resource, hosting the predicted as well as the experimentally validated microRNA (miRNA) …
resource, hosting the predicted as well as the experimentally validated microRNA (miRNA) …
Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing …
Background The retina is a complex tissue comprised of multiple cell types that is affected by
a diverse set of diseases that are important causes of vision loss. Characterizing the …
a diverse set of diseases that are important causes of vision loss. Characterizing the …
SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature
M Fukami, A Seki, T Ogata - Molecular Syndromology, 2016 - karger.com
SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the
major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature …
major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature …
In-silico algorithms for the screening of possible microRNA binding sites and their interactions
H Dweep, C Sticht, N Gretz - Current genomics, 2013 - ingentaconnect.com
MicroRNAs (miRNAs) comprise a recently discovered class of small, non-coding RNA
molecules of 21-25 nucleotides in length that regulate the gene expression by base-pairing …
molecules of 21-25 nucleotides in length that regulate the gene expression by base-pairing …
Copy number variants in patients with short stature
HA Van Duyvenvoorde, JC Lui, SG Kant… - European Journal of …, 2014 - nature.com
Height is a highly heritable and classic polygenic trait. Recent genome-wide association
studies (GWAS) have revealed that at least 180 genetic variants influence adult height …
studies (GWAS) have revealed that at least 180 genetic variants influence adult height …
The role of the SHOX gene in the pathophysiology of Turner syndrome
CS Oliveira, C Alves - Endocrinología y Nutrición (English Edition), 2011 - Elsevier
Abstract Turner syndrome (TS) affects 1: 2500 live females. It is caused by partial or
complete absence of a sex chromosome. Patients with deletions of the distal segment of the …
complete absence of a sex chromosome. Patients with deletions of the distal segment of the …
Transcription factors in neurodevelopmental and associated psychiatric disorders: A potential convergence for genetic and environmental risk factors
J Santos‐Terra, I Deckmann… - International Journal …, 2021 - Wiley Online Library
Neurodevelopmental disorders (NDDs) are a heterogeneous and highly prevalent group of
psychiatric conditions marked by impairments in the nervous system. Their onset occurs …
psychiatric conditions marked by impairments in the nervous system. Their onset occurs …
Septin genomics: a road less travelled
SEH Russell, PA Hall - 2011 - degruyter.com
The human septins are part of a gene family, that is a group of genes with similar sequences
and usually but not invariably share similar functions that are descended from a common …
and usually but not invariably share similar functions that are descended from a common …