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Townes-brocks Syndrome - Crossref

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Last Updated: 22 June 2022

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A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury

Mutations in SALL1 have triggered Townes-Brocks syndrome and nonsyndromic congenital anomalies of the kidney and urinary tract, both of which contribute to childhood kidney disease. Sall1 is a transcriptional regulator that is present in renal progenitor cells and embryonic nephrons. Sall1 is found in terminally differentiated renal epithelia, including the S3 segment of the proximal tubule in the mature kidney, according to our studies. Mice containing null alleles of Sall1 are not immune from acute kidney injury, indicating that the expression of a truncated mutant protein from the Sall1 TBS allele, though causative of congenital anomalies, shields the adult kidney from injury. In Sall1 TBS kidneys, elevated heme oxygenase-1 levels are also elevated, providing a reason for the relative resistance to injury in this model.

Source link: https://doi.org/10.1152/ajprenal.00222.2015


Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes

Zinc finger transcription factors are found in animals that are diverse as worms, spiders, and vertebrates, according to spalt genes. We review the effects of missing both of the spalt genes, spalt and spalt-related genes in the fruit fly Drosophila melanogaster, here, and identify defects in humans with Townes-Brocks' syndrome. In addition, spalt / spalt-related mutant antennae in Johnston's organ, the main auditory organ in Drosophila, shows significant reductions in the organ's organ, the main auditor organ in Drosophila. The spalt / spalt-related mutant flies are deaf, according to electrophysiological studies.

Source link: https://doi.org/10.1073/pnas.1836391100


Sall1 regulates cortical neurogenesis and laminar fate specification, implications for neural abnormalities in Townes Brocks Syndrome

During maturation, progenitor cells in the cerebral cortex undergo dynamic cellular and molecular changes. SALL1 gene mutations have been associated with autism, autosomal dominant developmental disorder, and Townes Brocks syndrome. Although neural impairments have not been identified as a diagnostic characteristic of the disease, a ten percent of patients have neural or behavioral abnormalities. According to both classical and condition knockout studies, the cerebral cortex is particularly vulnerable to Sall1 loss. At E18. 5, the cerebral cortex's surface area and depth were decreased in the absence of Sall1's absence. Sall1's early progenitor cells promote proliferative differentiation over neurogenic division, but Sall1 regulates the production and differentiation of intermediate progenitor cells at later developmental stages. These findings provide new insights into the role of Sall1 in the development of the brain and open doors for future research into potential neural dysfunctions in Townes Brocks patients.

Source link: https://doi.org/10.1242/dmm.002873


A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey

To our knowledge, only one reported case of TBS with no apparent pulmonary valve syndrome has been reported. We review a newborn with TBS in APVS and tetralogy of Fallot, who was discovered to have the most common pathogenic SALL1 gene mutation, c. 826C > T, here. This is the first genotyped case of TBS from Turkey to date, according to our knowledge. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, it means prolonged postoperative intubation and a higher risk of mortality.

Source link: https://doi.org/10.1055/s-0041-1740371


Association of a de novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Background Anophthalmia and microphthalmia are etiologically and morphologically heterogeneous. Lenz microphthalmia is a syndromic form that is often inherited in an X-linked manner, but the cause of gene mutation is unknown. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a Lenz microphthalmia syndrome clinical diagnosis. By microarray-based comparative genomic hybridization, the patient was found to have a 5. 6 Mb deletion of 16q11. 2q12. 1 in its entirety, as well as the SALL1 gene, which causes Townes-Brocks syndrome. This child has a number of characteristics that can be explained by the SALL1 deletion's deletion in retrospect, but it's unclear if the microphthalmia is a common feature of Townes-Brocks syndrome or caused by other mechanisms. These results show that rare copy number shifts could be a cause of syndromic microphthalmia, which may lead to a personalized genomic medicine approach to patient care with these aberrations.

Source link: https://doi.org/10.1186/1471-2350-10-137


Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

Abstract Background: Previous research has shown that mutations of Spalt Like Transcription Factor 1 are responsible for Townes-Brocks syndrome, a rare genetic disorder with an imperforate anus, dysplastic ears, thumb malformations, and other abnormalities such as hearing loss, foot malformations, renal impairment with or without renal malformations, congenital heart disease, and congenital heart disease are linked to such conditions as a rare genetic disorder that is characterized by In addition, the protein tyrosine phosphatase receptor type Q gene has been found in nonsyndromic hearing loss patients with autosomal recessive or autosomal dominant inherited patterns. Results of a new homozygous mutation in the proband and her father, who presented TBS phenotypes, [ENST00000266688] of PTPRQ in the proband and her mother, who suffered from nonsyndromic hearing loss, as well as a new homozygous mutation [ENST00000266688] of PTPRQ in the proband and her uncle.

Source link: https://doi.org/10.1186/s12920-021-00871-9


Whole-exome Sequencing Identified a Novel Heterozygous Mutation of SALL1 and a New Homozygous Mutation of PTPRQ in a Chinese Family With Townes-brocks Syndrome and Hearing Loss

paraphrasedoutput:Methods: In addition, the protein tyrosine phosphatase receptor type Q gene has been found in nonsyndromic hearing loss patients with autosomal recessive or autosomal dominant inherited patterns. Results: We found a new heterozygous mutation of SALL1 in the proband and her father, who presented TBS phenotypes, as well as a new nonsyndromic hearing loss in the proband and her uncle, who suffered from nonsyndromic hearing loss by a whole-exome sequencing and Sanger sequencing, as well as a new nonsyndromic hearing loss. TBS and hearing loss can be governed by medical and genetic counseling, as shown by our review.

Source link: https://doi.org/10.21203/rs.3.rs-137862/v1


LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is altered in Townes-Brocks Syndrome

ABSTRACT Primary cilia are sensory organelles that are vital for cell signal processing during development and organ homeostasis. We demonstrate that the leucine-zipper protein LUZP1 localizes to the pericentriolar bone and actin cytoskeleton. LUZP1 drops F-actin levels, promoting ciliogenesis and altering Sonic Hedgehog signaling, indicating a pivotal role in the cytoskeleton-cilia interdependency. In addition, we show that LUZP1 interacts with a truncated version of the transcription factor SALL1 that causes Townes-Brocks Syndrome. The degradation of LUZP1 by Truncated SALL1 increases the ubiquitin proteasome-mediated degradation of LUZP1.

Source link: https://doi.org/10.1101/721316


Hearing Loss in Townes-Brocks Syndrome

The hearing loss in Townes-Brocks syndrome is primarily sensorineural, affects high-frequency thresholds more than low-frequency thresholds, and has a variable conductive component. The hearing loss is slowly progressing, according to the sensorineural component. We present a summary of the otologic manifestations and an analysis of audiologic results in six members of a family with Townes-Brocks syndrome.

Source link: https://doi.org/10.1177/01945998941113p103


LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome

Primary cilia are sensory organelles that regulate cell signal expression during growth and organ homeostasis. Through our research into Townes-Brocks Syndrome, a rare condition related to abnormal cilia formation in human fibroblasts, we discovered LUZP1 as an interactor of truncated SALL1, a principally-acting protein responsible for the disease. SALL1's depletion of LUZP1 by ubiquitin proteasome-mediated degradation has occurred. TBS etiology may be related to changes in LUZP1 together with other factors.

Source link: https://doi.org/10.7554/elife.55957

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions