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Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively...
October 19, 2016: Scientific Reports
Maciej Ciesla, Paulina Marona, Magdalena Kozakowska, Mateusz Jez, Marta Seczynska, Agnieszka Loboda, Karolina Bukowska-Strakova, Agata Szade, Magdalena Walawender, Magdalena Kusior, Jacek Stepniewski, Krzysztof Szade, Bart Krist, Oleksandr Yagensky, Aleksandra Urbanik, Bernarda Kazanowska, Jozef Dulak, Alicja Jozkowicz
Rhabdomyosarcoma (RMS) is an aggressive soft tissue cancer characterized by disturbed myogenic differentiation. Here we report a role for the oxidative stress response factor HO-1 in progression of RMS. We found that HO-1 was elevated and its effector target miR-206 decreased in RMS cell lines and clinical primary tumors of the more aggressive alveolar phenotype (aRMS). In embryonal RMS (eRMS), HO-1 expression was induced by Pax3/7-FoxO1, an aRMS hallmark oncogene, followed by a drop in miR-206 levels. Inhibition of HO-1 by tin protoporphyrin (SnPP) or siRNA downregulated Pax3/7-FoxO1 target genes and induced a myogenic program in RMS...
October 1, 2016: Cancer Research
Sonia Alonso-Martin, Anne Rochat, Despoina Mademtzoglou, Jessica Morais, Aurélien de Reyniès, Frédéric Auradé, Ted Hung-Tse Chang, Peter S Zammit, Frédéric Relaix
Skeletal muscle growth and regeneration require a population of muscle stem cells, the satellite cells, located in close contact to the myofiber. These cells are specified during fetal and early postnatal development in mice from a Pax3/7 population of embryonic progenitor cells. As little is known about the genetic control of their formation and maintenance, we performed a genome-wide chronological expression profile identifying the dynamic transcriptomic changes involved in establishment of muscle stem cells through life, and acquisition of muscle stem cell properties...
2016: Frontiers in Cell and Developmental Biology
Patrizia Gasparini, Michela Casanova, Raffaella Villa, Paola Collini, Rita Alaggio, Angelica Zin, Paolo Bonvini, Cristina R Antonescu, Renata Boldrini, Roberto Caserini, Massimo Moro, Giovanni Centonze, Cristina Meazza, Maura Massimino, Luca Bergamaschi, Roberto Luksch, Stefano Chiaravalli, Gianni Bisogno, Nadia Zaffaroni, MariaGrazia Daidone, Gabriella Sozzi, Andrea Ferrari
Rhabdomyosarcoma (RMS) is the most frequent soft tissue tumor in childhood and arises from immature mesenchymal cells committed to skeletal muscle differentiation. Anaplastic Lymphoma Kinase (ALK) is a receptor tyrosine kinase aberrantly expressed in several cancers. Moreover, ALK full-length receptor protein has been observed in RMS, although its clinical and functional significance is yet controversial. The role of ALK and its clinical relevance were investigated in a selected cohort of 74 FFPE pediatric RMS and a panel of RMS cell lines, evaluating its gene and protein status, utilizing Fluorescent In Situ Hybridization (FISH), immunohistochemistry (IHC) and Western blot approaches...
July 1, 2016: Oncotarget
Ziqi Hao, Yongan Zhou, Pengli Li, Quanbin Zhang, Jiao Li, Pengfei Wang, Xiangshao Li, Yong Feng
OBJECTIVE: To perform genetic analysis for 7 patients with Waardenburg syndrome. METHODS: Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. RESULTS: Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c...
June 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Isidro Machado, Lara Navarro, Antonio Pellin, Samuel Navarro, Abbas Agaimy, Juan C Tardío, Apollon Karseladze, Semyon Petrov, Katia Scotlandi, Piero Picci, Antonio Llombart-Bosch
BACKGROUND: Differentiation of Ewing sarcoma family of tumors (ESFT) and Ewing-like tumors remains problematic. Certain ESFT with morphological and immunohistochemical (IHC) profiles lack the EWSR1-ETS transcript. To improve diagnostic accuracy we investigated the presence of several specific transcripts in 200 small round cell tumors (SRCT) displaying ESFT morphology and immunophenotype in which EWSR1 FISH analysis was non-informative or negative. DESIGN: 200 tumors (formalin-fixed, paraffin-embedded) were analyzed by RT-PCR...
June 2016: Annals of Diagnostic Pathology
A Buresi, A Andouche, S Navet, Y Bassaglia, L Bonnaud-Ponticelli, S Baratte
Cephalopods possess the most complex centralized nervous system among molluscs and the molecular determinants of its development have only begun to be explored. To better understand how evolved their brain and body axes, we studied Sepia officinalis embryos and investigated the expression patterns of neural regionalization genes involved in the mediolateral patterning of the neuroectoderm in model species. SoxB1 expression reveals that the embryonic neuroectoderm is made of several distinct territories that constitute a large part of the animal pole disc...
July 1, 2016: Developmental Biology
Laitao Zhang, Yi-Fang Li, Sheng Yuan, Shijie Zhang, Huanhuan Zheng, Jie Liu, Pinghua Sun, Yijun Gu, Hiroshi Kurihara, Rong-Rong He, Heru Chen
Bioactivity focus on α-cyano-4-hydroxycinnamic acid (CHCA) scaffold results in a small library of novel multifunctional aldose reductase (ALR2) inhibitors. All the entities displayed good to excellent inhibition with IC50 72-405 nM. (R,E)-N-(3-(2-acetamido-3-(benzyloxy)propanamido)propyl)-2-cyano-3-(4-hydroxy phenyl)acrylamide (5f) was confirmed as the most active inhibitor (IC50 72.7 ± 1.6 nM), and the best antioxidant. 5f bound to ALR2 with new mode without affecting the aldehyde reductase (ALR1) activity, implicating high selectivity to ALR2...
2016: Scientific Reports
Qiumei Yang, Jie Yu, Bing Yu, Zhiqing Huang, Keying Zhang, De Wu, Jun He, Xiangbing Mao, Ping Zheng, Daiwen Chen
INTRODUCTION: Different populations of satellite cells (SCs) have been identified, but their functional difference remains unclear. METHODS: We used cell-surface markers and paired box transcription factor 3 (Pax3)/paired box transcription factor 7 (Pax7) expression to separate SC populations. In addition, self-renewal, proliferation, and differentiation abilities of each population were analyzed. RESULTS: Pax3(+) /Pax7(-) SCs exhibited higher proliferation ability characterized by forming clusters of myogenic colonies with more self-renewing cells after several passages, while Pax3(-) /Pax7(+) SCs had faster differentiation...
March 25, 2016: Muscle & Nerve
Penghua Yang, Wei-bin Shen, E Albert Reece, Xi Chen, Peixin Yang
Abnormal neurogenesis occurs during embryonic development in human diabetic pregnancies and in animal models of diabetic embryopathy. Our previous studies in a mouse model of diabetic embryopathy have implicated that high glucose of maternal diabetes delays neurogenesis in the developing neuroepithelium leading to neural tube defects. However, the underlying process in high glucose-impaired neurogenesis is uncharacterized. Neurogenesis from embryonic stem (ES) cells provides a valuable model for understanding the abnormal neural lineage development under high glucose conditions...
April 1, 2016: Biochemical and Biophysical Research Communications
Yong Chen, Fuwei Yang, Hexin Zheng, Jianda Zhou, Ganghua Zhu, Peng Hu, Weijing Wu
The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing...
March 2016: Molecular Medicine Reports
Yong Chen, Fuwei Yang, Hexin Zheng, Ganghua Zhu, Peng Hu, Weijing Wu
OBJECTIVE: To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling. METHODS: Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations. RESULTS: A heterozygous deletional mutation c...
December 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Panagiotis Karagiannis, Nina Guth, Gabriela B Thoennissen, Christina Bern, Jan Sperveslage, Ilske Oschlies, Carsten Bokemeyer, Wolfram Klapper, Eva Wardelmann, Nils H Thoennissen
BACKGROUND: Rhabdomyosarcoma (RMS), a malignant tumour of mesenchymal origin which can occur at various sites in the body, is one of the most common soft tissue sarcomas in both children and adolescents, but is rare in adults with a prevalence of less than 1 %. The alveolar subtype of rhabdomyosarcoma (ARMS) is typically characterized by a specific reciprocal chromosomal translocation involving the PAX3 and FKHR or PAX7 and FKHR genes, respectively. ARMS is most frequently seen in childhood, and typically affects the sinuses and soft tissue of the extremities, with approximately 23 % exhibiting metastasis to the marrow...
2015: Clinical Sarcoma Research
Alberto Stolfi, Kerrianne Ryan, Ian A Meinertzhagen, Lionel Christiaen
The neural crest is an evolutionary novelty that fostered the emergence of vertebrate anatomical innovations such as the cranium and jaws. During embryonic development, multipotent neural crest cells are specified at the lateral borders of the neural plate before delaminating, migrating and differentiating into various cell types. In invertebrate chordates (cephalochordates and tunicates), neural plate border cells express conserved factors such as Msx, Snail and Pax3/7 and generate melanin-containing pigment cells, a derivative of the neural crest in vertebrates...
November 19, 2015: Nature
Y Wang, R P Zhang, Y M Zhao, Q Q Li, X P Yan, J Y Liu, H Gou, L Li
This study aimed to investigate whether the differential expression of muscle development-related genes is one of the reasons why muscle development differs between Pekin, Jianchang, and Heiwu ducks, which are all domesticated duck breeds (Anas platyrhynchos domestica) breeds. At 2 weeks of age, the RNA expression of paired box 7 (Pax7), paired box 3 (Pax3), myogenic differentiation antigen (MYOD), and myogenin (MYOG) genes were measured by quantitative polymerase chain reaction, and Pax3 and Pax7 protein levels were detected by western blot assay...
2015: Genetics and Molecular Research: GMR
Margaret Buckingham, Frédéric Relaix
Like other subclasses within the PAX transcription factor family, PAX3 and PAX7 play important roles in the emergence of a number of different tissues during development. PAX3 regulates neural crest and, together with its orthologue PAX7, is also expressed in parts of the central nervous system. In this chapter we will focus on their role in skeletal muscle. Both factors are key regulators of myogenesis where Pax3 plays a major role during early skeletal muscle formation in the embryo while Pax7 predominates during post-natal growth and muscle regeneration in the adult...
August 2015: Seminars in Cell & Developmental Biology
Anne H Monsoro-Burq
The nine vertebrate PAX transcription factors (PAX1-PAX9) play essential roles during early development and organogenesis. Pax genes were identified in vertebrates using their homology with the Drosophila melanogaster paired gene DNA-binding domain. PAX1-9 functions are largely conserved throughout vertebrate evolution, in particular during central nervous system and neural crest development. The neural crest is a vertebrate invention, which gives rise to numerous derivatives during organogenesis, including neurons and glia of the peripheral nervous system, craniofacial skeleton and mesenchyme, the heart outflow tract, endocrine and pigment cells...
August 2015: Seminars in Cell & Developmental Biology
Zezhang Zhu, Nelson Leung-Sang Tang, Leilei Xu, Xiaodong Qin, Saihu Mao, Yueming Song, Limin Liu, Fangcai Li, Peng Liu, Long Yi, Jiang Chang, Long Jiang, Bobby Kin-Wah Ng, Benlong Shi, Wen Zhang, Jun Qiao, Xu Sun, Xusheng Qiu, Zhou Wang, Fei Wang, Dingding Xie, Ling Chen, Zhonghui Chen, Mengran Jin, Xiao Han, Zongshan Hu, Zhen Zhang, Zhen Liu, Feng Zhu, Bang-Ping Qian, Yang Yu, Bing Wang, K M Lee, Wayne Y W Lee, T P Lam, Yong Qiu, Jack Chun-Yiu Cheng
Adolescent idiopathic scoliosis (AIS) is a structural deformity of the spine affecting millions of children. As a complex disease, the genetic aetiology of AIS remains obscure. Here we report the results of a four-stage genome-wide association study (GWAS) conducted in a sample of 4,317 AIS patients and 6,016 controls. Overall, we identify three new susceptibility loci at 1p36.32 near AJAP1 (rs241215, Pcombined=2.95 × 10(-9)), 2q36.1 between PAX3 and EPHA4 (rs13398147, Pcombined=7.59 × 10(-13)) and 18q21...
2015: Nature Communications
Juntang Lin, Congrui Wang, Ciqing Yang, Sulei Fu, Christoph Redies
Pax3 and Pax7 are closely related transcription factors that are widely expressed in the developing nervous system and somites. In the CNS, both genes are expressed in the dorsal part of the neural tube during development. Pax3 and Pax7 are involved in the sonic hedgehog (Shh) signaling pathway and are inhibited by Shh overexpression. The present study confirms in vivo that Pax3 overexpression represses the expression of Pax7, whereas Pax7 overexpression endogenously enhances and ectopically induces the expression of Pax3 in the developing chicken spinal cord...
April 1, 2016: Journal of Comparative Neurology
Ryu Jokoji, Jun-ichiro Ikeda, Masahiko Tsujimoto, Eiichi Morii
Recently, we encountered a biopsy of epithelioid rabdomyosarcoma with lymph node metastasis. A computed tomography (CT) scan showed number of swollen lymph nodes in the left neck and a huge abdominal mass occupying the right kidney. In the lymph node biopsy, tumor cells showed diffuse sheet-like growth reminiscent of carcinoma and melanoma cells with extensive distribution of coagulation necrosis. Tumor cells had abundant amphophilic cytoplasm and clear large nuclei. Most tumor cells showed severe cytologic atypia manifested in prominent nucleoli and pleomorphic nuclei...
2015: Diagnostic Pathology
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