Phenotypic variability to medication management: an update on fragile X syndrome
NA Elhawary, IA AlJahdali, IS Abumansour, ZA Azher… - Human Genomics, 2023 - Springer
This review discusses the discovery, epidemiology, pathophysiology, genetic etiology,
molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It …
molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It …
Molecular pathogenesis and peripheral monitoring of adult fragile X-associated syndromes
Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and,
in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5' …
in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5' …
A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome
Fragile X syndrome (FXS) is the most common inherited intellectual disability. FXS is caused
by a trinucleotide repeat expansion in the 5′ untranslated region of the FMR1 gene, which …
by a trinucleotide repeat expansion in the 5′ untranslated region of the FMR1 gene, which …
Variable expressivity in fragile X syndrome: towards the identification of molecular characteristics that modify the phenotype
Fragile X syndrome (FXS), is an X-linked inherited genetic disease. FXS is the leading
cause of inherited intellectual disability and autism in the world. Those affected are …
cause of inherited intellectual disability and autism in the world. Those affected are …
[HTML][HTML] Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1/Fragile X Mental Retardation Protein in Human Granulosa Cells in the …
XP Nguyen, A Vilkaite, U Bender, JE Dietrich… - International Journal of …, 2024 - mdpi.com
Fragile X mental retardation protein (FMRP) is a translational repressor encoded by FMR1. It
targets bone morphogenetic protein receptor type II (BMPR2), which regulates granulosa …
targets bone morphogenetic protein receptor type II (BMPR2), which regulates granulosa …
The Prognostic and Therapeutic Potential of Fragile X Mental Retardation 1 (FMR1) Gene Expression in Prostate Adenocarcinoma: Insights into Survival Outcomes …
Prostate adenocarcinoma (PRAD) is the second most common tumor associated with death.
The role and mechanisms of the fragile X mental retardation 1 (FMR1) gene in PRAD remain …
The role and mechanisms of the fragile X mental retardation 1 (FMR1) gene in PRAD remain …
Position Effect Variegation: Role of the Local Chromatin Context in Gene Expression Regulation
Position effect variegation (PEV) is a phenomenon wherein the expression level of a gene
strongly depends on its genomic position. PEV can be observed when a gene is moved via …
strongly depends on its genomic position. PEV can be observed when a gene is moved via …
[PDF][PDF] Некодирующие РНК в патогенезе заболеваний, ассоциированных с ломкой Х-хромосомой
ДВ Юдкин - vector.nsc.ru
На сегодняшний день существует целый ряд заболеваний, обобщенных под общим
термином «фраксопатии». Он включает в себя синдромы, связанные с экспансией CGG …
термином «фраксопатии». Он включает в себя синдромы, связанные с экспансией CGG …