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https://www.readbyqxmd.com/read/29442331/role-of-zic-family-proteins-in-transcriptional-regulation-and-chromatin-remodeling
#1
Minoru Hatayama, Jun Aruga
Proper functions of Zic proteins are essential for animals in health and disease. Here, we summarize our current understanding of the molecular properties and functions of the Zic family across animal species and paralog subtypes. Zics are basic proteins with some posttranslational modifications and can move to the cell nucleus via importin- and CRM1-based nucleocytoplasmic shuttling mechanisms. Degradation is mediated by the ubiquitin proteasome system. Many Zic proteins are capable of binding to two types of target DNA sequences (CTGCTG-core-type and GC-stretch-type)...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29419867/-analysis-of-sox10-gene-mutation-in-a-family-affected-with-waardenburg-syndrome-type-ii
#2
Lei Zheng, Yousheng Yan, Xue Chen, Chuan Zhang, Qinghua Zhang, Xuan Feng, Shen Hao
OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29407415/waardenburg-syndrome-novel-mutations-in-a-large-brazilian-sample
#3
Magnolia Astrid Pretell Bocángel, Uirá Souto Melo, Leandro Ucela Alves, Eliete Pardono, Naila Cristina Vilaça Lourenço, Humberto Vicente Cezar Marcolino, Paulo Alberto Otto, Regina Célia Mingroni-Netto
This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 being affected by the type 2 (WS2) variant (five familial and 20 isolated cases). Sequential Sanger sequencing of all coding exons of PAX3, MITF, EDN3, EDNRB, SOX10 and SNAI2 genes, followed by CNV detection by MLPA of PAX3, MITF and SOX10 genes in selected cases revealed many novel pathogenic variants...
January 30, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29396607/-sinonasal-tumors-news-from-the-who-with-special-reference-to-mesenchymal-entities
#4
REVIEW
A Agaimy, F Haller, A Hartmann
The last two decades have seen significant advances in the pathology of sinonasal tract neoplasms. This was the consequence of the availability of several innovative diagnostic tools, which resulted in a dynamic evolution of entities and splitting of newly defined or conceptualized entities and subtypes that have been included in the spectrum of old heterogeneous diseases. Most of these new tumor subtypes have distinctive demographic, clinicopathologic, and biological characteristics with prognostic and therapeutic implications for individual patients...
February 2, 2018: Der Pathologe
https://www.readbyqxmd.com/read/29367756/pax3-foxo1-drives-mir-486-5p-and-represses-mir-221-contributing-to-pathogenesis-of-alveolar-rhabdomyosarcoma
#5
Jason A Hanna, Matthew R Garcia, Alicia Lardennois, Patrick J Leavey, Dino Maglic, Alexandre Fagnan, Jonathan C Go, Jordan Roach, Yong-Dong Wang, David Finkelstein, Mark E Hatley
Rhabdomyosarcoma is the most common soft-tissue sarcoma in childhood and histologically resembles developing skeletal muscle. Alveolar rhabdomyosarcoma (ARMS) is an aggressive subtype with a higher rate of metastasis and poorer prognosis. The majority of ARMS tumors (80%) harbor a PAX3-FOXO1 or less commonly a PAX7-FOXO1 fusion gene. The presence of either the PAX3-FOXO1 or PAX7-FOXO1 fusion gene foretells a poorer prognosis resulting in clinical re-classification as either fusion-positive (FP-RMS) or fusion-negative RMS (FN-RMS)...
January 25, 2018: Oncogene
https://www.readbyqxmd.com/read/29364872/the-axolotl-genome-and-the-evolution-of-key-tissue-formation-regulators
#6
Sergej Nowoshilow, Siegfried Schloissnig, Ji-Feng Fei, Andreas Dahl, Andy W C Pang, Martin Pippel, Sylke Winkler, Alex R Hastie, George Young, Juliana G Roscito, Francisco Falcon, Dunja Knapp, Sean Powell, Alfredo Cruz, Han Cao, Bianca Habermann, Michael Hiller, Elly M Tanaka, Eugene W Myers
Salamanders serve as important tetrapod models for developmental, regeneration and evolutionary studies. An extensive molecular toolkit makes the Mexican axolotl (Ambystoma mexicanum) a key representative salamander for molecular investigations. Here we report the sequencing and assembly of the 32-gigabase-pair axolotl genome using an approach that combined long-read sequencing, optical mapping and development of a new genome assembler (MARVEL). We observed a size expansion of introns and intergenic regions, largely attributable to multiplication of long terminal repeat retroelements...
February 1, 2018: Nature
https://www.readbyqxmd.com/read/29314416/transient-microrna-expression-enhances-myogenic-potential-of-mouse-embryonic-stem-cells
#7
Joanna Bem, Iwona Grabowska, Maciej Daniszewski, Dorota Zawada, Areta Czerwinska, Lukasz Bugajski, Katarzyna Piwocka, Anna Fogtman, Maria A Ciemerych
MicroRNAs (miRNAs) are known regulators of various cellular processes, including pluripotency and differentiation of embryonic stem cells (ESCs). We analyzed differentiation of two ESC lines - D3 and B8, and observed significant differences in the expression of miRNAs and genes involved in pluripotency and differentiation. We also examined if transient miRNA overexpression could serve as a sufficient impulse modulating differentiation of mouse ESCs. ESCs were transfected with miRNA Mimics and differentiated in embryoid bodies and embryoid body outgrowths...
January 4, 2018: Stem Cells
https://www.readbyqxmd.com/read/29287889/a-novel-mutation-of-the-eya4-gene-associated-with-post-lingual-hearing-loss-in-a-proband-is-co-segregating-with-a-novel-pax3-mutation-in-two-congenitally-deaf-family-members
#8
Federica Cesca, Elisa Bettella, Roberta Polli, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia
OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287868/germinal-mosaicism-of-pax3-mutation-caused-waardenburg-syndrome-type-i
#9
Kaitian Chen, Yuan Zhan, Xuan Wu, Ling Zong, Hongyan Jiang
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29277758/sphingosine-induces-apoptosis-and-down-regulation-of-mycn-in-pax3-foxo1-positive-alveolar-rhabdomyosarcoma-cells-irrespective-of-tp53-mutation
#10
Eun Hyun Ahn, Michael B Lee, Dong Joo Seo, Juseong Lee, Yonghyun Kim, Kshitiz Gupta
BACKGROUND/AIM: Rhabdomyosarcoma is the most common type of pediatric soft-tissue sarcoma. Among the subsets of this disease, alveolar rhabdomyosarcoma (ARMS) expressing paired box 3 (PAX3) and forkhead box O1 (PAX3-FOXO1) fusion oncoprotein has the worst prognosis. The goal of this study was to investigate the chemotherapeutic effects of sphingosine on PAX3-FOXO1-positive ARMS cells [tumor protein p53 (TP53)-mutated RH30 and TP53 wild-type RH18 cells]. MATERIALS AND METHODS: The proliferation, cell death, apoptosis, cell cycle, and MYCN proto-oncogene (MYCN) expression of RH30 and RH18 cells were determined...
January 2018: Anticancer Research
https://www.readbyqxmd.com/read/29277616/anosmin-1-is-essential-for-neural-crest-and-cranial-placodes-formation-in-xenopus
#11
Chang-Joon Bae, Chang-Soo Hong, Jean-Pierre Saint-Jeannet
During embryogenesis vertebrates develop a complex craniofacial skeleton associated with sensory organs. These structures are primarily derived from two embryonic cell populations the neural crest and cranial placodes, respectively. Neural crest cells and cranial placodes are specified through the integrated action of several families of signaling molecules, and the subsequent activation of a complex network of transcription factors. Here we describe the expression and function of Anosmin-1 (Anos1), an extracellular matrix protein, during neural crest and cranial placodes development in Xenopus laevis...
December 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29273779/reading-and-editing-the-pleurodeles-waltl-genome-reveals-novel-features-of-tetrapod-regeneration
#12
Ahmed Elewa, Heng Wang, Carlos Talavera-López, Alberto Joven, Gonçalo Brito, Anoop Kumar, L Shahul Hameed, May Penrad-Mobayed, Zeyu Yao, Neda Zamani, Yamen Abbas, Ilgar Abdullayev, Rickard Sandberg, Manfred Grabherr, Björn Andersson, András Simon
Salamanders exhibit an extraordinary ability among vertebrates to regenerate complex body parts. However, scarce genomic resources have limited our understanding of regeneration in adult salamanders. Here, we present the ~20 Gb genome and transcriptome of the Iberian ribbed newt Pleurodeles waltl, a tractable species suitable for laboratory research. We find that embryonic stem cell-specific miRNAs mir-93b and mir-427/430/302, as well as Harbinger DNA transposons carrying the Myb-like proto-oncogene have expanded dramatically in the Pleurodeles waltl genome and are co-expressed during limb regeneration...
December 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/29224756/novel-pax3-mutations-causing-waardenburg-syndrome-type-1-in-tunisian-patients
#13
Mediha Trabelsi, Malek Nouira, Faouzi Maazoul, Lilia Kraoua, Rim Meddeb, Ines Ouertani, Imen Chelly, Valérie Benoit, Ghazi Besbes, Ridha Mrad
Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. The aims of this study are to confirm the diagnostic of WS1 by the sequencing of PAX3 gene and to evaluate the genotype phenotype correlation. A clinical classification was established for 14 patients WS, as proposed by the Waardenburg Consortium, and noted a predominance of type 1 and type 2 with 6 patients WS1, 7 patients WS2 and 1 patient WS3...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29224278/-clinicopathologic-and-molecular-genetic-characterizations-of-biphenotypic-sinonasal-sarcoma
#14
M Zhao, Q Y LaoI, D H Zhao, J Ma, G Q Ru, X L He, Z Wang, J Wang
Objective: To investigate the clinicopathologic characteristics, immunophenotypes, molecular genetics, and diagnostic and differential diagnostic features of biphenotypic sinonasal sarcoma (BSNS). Methods: Three cases of BSNS were retrieved, the histomorphology, immunophenotype and molecular genetics were analyzed with review of literature. Results: There were 2 male and 1 female patient aged 45, 29 and 40 years, respectively.Computed tomography and magnetic resonance imaging examinations showed a large polypoid mass occupying the sinonasal cavity in all 3 patients...
December 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29214757/clinical-and-cytogenetic-profiles-of-rhabdomyosarcoma-with-bone-marrow-involvement-in-korean-children-a-15-year-single-institution-experience
#15
Dong Hyun Lee, Chan Jeoung Park, Seongsoo Jang, Young Uk Cho, Jong Jin Seo, Ho Joon Im, Kyung Nam Koh, Kyung Ja Cho, Joon Seon Song, Eul Ju Seo
BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with embryonal RMS (ERMS). Because the chromosomal features of RMS have not been comprehensively defined, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow. METHODS: Fifty-one Korean patients with RMS <18 years of age treated between 2001 and 2015 were enrolled in this study...
March 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29214748/alterations-in-the-in-vitro-and-in-vivo-regulation-of-muscle-regeneration-in-healthy-ageing-and-the-influence-of-sarcopenia
#16
Joanna Brzeszczyńska, Angelika Meyer, Robin McGregor, Alain Schilb, Simone Degen, Valentina Tadini, Neil Johns, Ramon Langen, Annemie Schols, David J Glass, Ronenn Roubenoff, James A Ross, Kenneth C H Fearon, Carolyn A Greig, Carsten Jacobi
BACKGROUND: Sarcopenia is defined as the age-related loss of skeletal muscle mass and function. While all humans lose muscle with age, 2-5% of elderly adults develop functional consequences (disabilities). The aim of this study was to investigate muscle myogenesis in healthy elderly adults, with or without sarcopenia, compared with middle-aged controls using both in vivo and in vitro approaches to explore potential biomarker or causative molecular pathways associated with sarcopenic versus non-sarcopenic skeletal muscle phenotypes during ageing...
December 6, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/29186180/clonogenic-myogenic-progenitors-expressing-mcam-cd146-are-incorporated-as-adventitial-reticular-cells-in-the-microvascular-compartment-of-human-post-natal-skeletal-muscle
#17
Tiziana Persichini, Alessia Funari, Marco Colasanti, Benedetto Sacchetti
Recent observation identifies subendothelial (mural) cells expressing MCAM, a specific system of clonogenic, self-renewing, osteoprogenitors (a.k.a, "mesenchymal stem cells") in the microvascular compartment of post-natal human bone marrow (BM). In this study, we used MCAM/CD146, as a marker to localize, isolate and assay subendothelial clonogenic cells from the microvasculature of postnatal human skeletal muscle. We show here that these cells share with their BM counterpart, anatomic position (subendothelial/adventitial) and ex vivo clonogenicity (CFU-Fs)...
2017: PloS One
https://www.readbyqxmd.com/read/29181033/insulin-like-growth-factor-binding-protein-6-alters-skeletal-muscle-differentiation-of-human-mesenchymal-stem-cells
#18
Doaa Aboalola, Victor K M Han
Insulin-like growth factor binding protein-6 (IGFBP-6), the main regulator of insulin-like growth factor-2 (IGF-2), is a component of the stem cell niche in developing muscle cells. However, its role in muscle development has not been clearly defined. In this study, we investigated the role of IGFBP-6 in muscle commitment and differentiation of human mesenchymal stem cells derived from the placenta. We showed that placental mesenchymal stem cells (PMSCs) have the ability to differentiate into muscle cells when exposed to a specific culture medium by expressing muscle markers Pax3/7, MyoD, myogenin, and myosin heavy chain in a stage-dependent manner with the ultimate formation of multinucleated fibers and losing pluripotency-associated markers, OCT4 and SOX2...
2017: Stem Cells International
https://www.readbyqxmd.com/read/29158168/identification-and-functional-analysis-of-a-novel-mutation-in-the-pax3-gene-associated-with-waardenburg-syndrome-type-i
#19
Zhijie Niu, Jiada Li, Fen Tang, Jie Sun, Xueping Wang, Lu Jiang, Lingyun Mei, Hongsheng Chen, Yalan Liu, Xinzhang Cai, Yong Feng, Chufeng He
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p.R270G) in a three-generation Chinese family with WS1, and then analyzed its in vitro activities. The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family...
November 17, 2017: Gene
https://www.readbyqxmd.com/read/29152063/acquisition-of-an-oncogenic-fusion-protein-is-sufficient-to-globally-alter-the-landscape-of-mirna-expression-to-inhibit-myogenic-differentiation
#20
Jacob M Loupe, Patrick J Miller, Judy S Crabtree, Jovanny Zabaleta, Andrew D Hollenbach
The differentiation status of tumors is used as a prognostic indicator, with tumors comprised of less differentiated cells exhibiting higher levels of aggressiveness that correlate with a poor prognosis. Although oncogenes contribute to blocking differentiation, it is not clear how they globally alter miRNA expression during differentiation to achieve this result. The pediatric sarcoma Alveolar Rhabdomyosarcoma, which is primarily characterized by the expression of the PAX3-FOXO1 oncogenic fusion protein, consists of undifferentiated muscle cells...
October 20, 2017: Oncotarget
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