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3P DELETION SYNDROME - PubAg

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Last Updated: 16 October 2021

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Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review

We review the literary works of chromosome 17p13. 3 deletion syndrome with prenatal findings and medical diagnosis, and suggest that prenatal ultrasound detection of central nerves abnormalities such as lissencephaly, corpus callosum dysgenesis/agenesis, ventriculomegaly and microcephaly connected with IUGR, polyhydramnios, congenital heart flaws, stomach wall flaws and kidney irregularities ought to consist of a differential diagnosis of chromosome 17p13. 3 deletion syndrome.

Source link: https://pubag.nal.usda.gov/catalog/991613


Porcine reproductive and respiratory syndrome virus increases SOCS3 production via activation of p38/AP-1 signaling pathway to promote viral replication

SOCS3 belongs to the suppressor of cytokine signaling family, which function as negative variables in host immune responses. Previous studies have noted the value of SOCS family proteins in immunosuppression generated by some infections. Porcine respiratory and reproductive syndrome infection is just one of the most vital swine-borne infections and has intimidated the international swine industry with big financial losses since it was first defined in the 1980s. In this study, it was observed that SOCS3 was upregulated in PRRSV-infected main porcine alveolar macrophages and Marc-145 cells with dose-dependent results, which depends on virus replication. Deletion of AP-1 binding concept located in SOCS3 marketer hindered marketer tasks, which indicates that AP-1 is essential for PRRSV-induced SOCS3. Importantly, SOCS3 improved PRRSV duplication throughout infection. Taken together, this study indicates that PRRSV infection induced SOCS3 expression via p38/AP -1 signaling pathway.

Source link: https://pubag.nal.usda.gov/catalog/7349068


Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

Autism spectrum problem is a collection of neurodevelopmental problems identified by early-onset troubles in social interaction and abnormally restricted, repetitive actions and interests. Parental consanguinity may bring about greater danger of ASD and to extra serious professional presentations in the spawn. Studies of ASD family members with high inbreeding enable the identification of inherited versions of this condition especially those with an autosomal recessive pattern of inheritance. Our result supports the effects of ELMOD3 in hearing loss and highlights the possible medical relevance of 2p11. 2 deletion in autism and/or intellectual disability.

Source link: https://pubag.nal.usda.gov/catalog/6301028


Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

It was shown lately that the ZMYND11 genetics has essential functions in epigenetic policy as an unusual transcription co-repressor of highly revealed genes, potentially acting in the repression of cryptic transcription from genetics bodies. The purpose of our research study was to compare the professional phenotypes of patients with 10p15. 3 removals with the phenotypes of patients with loss-of-function ZMYND11 anomalies. The outcomes of our study further confirm that the ZMYND11 genetics is the essential genetics for the scientific phenotype of 10p15. 3 microdeletion involving the incurable ~ 4 Megabytes of chromosome 10p.

Source link: https://pubag.nal.usda.gov/catalog/5845753


Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Microdeletions covering 2p14-- p15 have just recently been described in two patients with developmental and speech hold-up and intellectual disability however no genetic malformations or serious face dysmorphism. The individual had scientific features partly regular with the released cases consisting of intellectual disability, lacking speech, microcephaly, long face, round nasal pointer and slim top lip, yet his total scientific picture was a lot more extreme contrasted to the released patients.

Source link: https://pubag.nal.usda.gov/catalog/990331


NFATc3 deficiency protects against high fat diet (HFD)-induced hypothalamus inflammation and apoptosis via p38 and JNK suppression

Nuclear Factors of Activated T cells show many physical and pathological results. Nevertheless, the function of NFATc3 in high fat diet -caused hypothalamus injury remains unidentified. The wild type and NFATc3-knockout mice went through HFD feeding for 16 weeks to analyze NFATc3 function in vivo. Astrocytes separated from WT or KO mice were cultured and exposed to fructose in vitro. NFATc3 was substantially up-regulated in hypothalamus from mice tested with HFD, and in astrocytes incubated with Fru. Of note, we recognized that advertising p38 or JNK activation can rescue inflammatory response and apoptosis in NFATc3-KO astrocytes boosted by Fru. Together, these searchings for disclosed a crucial function of NFATc3 for HFD-induced metabolic syndrome and specifically hypothalamus injury, and understanding of the regulative molecular mechanism could give new and efficient restorative strategies for avoidance and treatment of hypothalamic damage related to dietary obesity-associated neuroinflammation and apoptosis.

Source link: https://pubag.nal.usda.gov/catalog/5932811


Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

Incurable deletion in the brief arm of chromosome 1 results in a condition called 1p36 deletion syndrome. In the here and now case, we carried out array-comparative genomic hybridization in a child with multiple congenital malformations offering some functions overlapping the 1p36 deletion phenotype for whom chromosomal analysis did not disclose a terminal deletion in 1p. The visibility of at least 12 gathered breaks at 1p and noticeable absence of mosaicism in the here and now case recommends that a solitary occasion like chromothripsis occurred. This searching for suggests that chromothripsis is liable for some constitutive complex chromosome rearrangements.

Source link: https://pubag.nal.usda.gov/catalog/4663186


1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development

Numerous Wolf-Hirschhorn syndrome patients have been researched, mouse models for a couple of candidate genetics have been constructed and 2 WHS vital regions have been proposed, but the molecular basis of the syndrome remains improperly recognized. Solitary genetics contributions to phenotypes of microdeletion syndromes have typically been based on the study of patients bring little, atypical deletions. Four of eight patients lug a ring, and ring chromosomes in general are linked with growth deficiency.

Source link: https://pubag.nal.usda.gov/catalog/989906


Citrus tristeza virus co-opts glyceraldehyde 3-phosphate dehydrogenase for its infectious cycle by interacting with the viral-encoded protein p23

CRUCIAL MESSAGE: Citrus tristeza infection inscribes an unique protein, p23, with multiple functional roles that consist of co-option of the cytoplasmic glyceraldehyde 3-phosphate dehydrogenase to facilitate the viral transmittable cycle. The genome of citrus tristeza infection, category Closterovirus family Closteroviridae, is a single-stranded RNA possibly encoding at the very least 17 proteins. Here, a yeast two-hybrid testing of an expression collection of Nicotiana benthamiana, recognized a transducin/WD40 domain name healthy protein and the cytosolic glyceraldehyde 3-phosphate dehydrogenase as potential host interactors with p23. Bimolecular fluorescence complementation corroborated the p23-GAPDH interaction in planta and revealed that p23 communicates with itself in the nucleolus, Cajal bodies and plasmodesmata, and with GAPDH in the cytoplasm and in plasmodesmata. Virus-induced gene silencing of GAPDH mRNA led to a decrease of CTV titer as disclosed by real-time RT-quantitative PCR and RNA gel-blot hybridization.

Source link: https://pubag.nal.usda.gov/catalog/6216078

* 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