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https://www.readbyqxmd.com/read/28298997/tricho-dento-osseous-syndrome-and-precocious-eruption
#1
Parul Jain, Rahul Kaul, Subrata Saha, Subir Sarkar
Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. In this article, we report a case of TDO in which the child had typical clinical features of hair, teeth and bone defects, as seen in TDO...
March 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28256045/two-cases-of-legg-perthes-and-intellectual-disability-in-tricho-rhino-phalangeal-syndrome-type-1-associated-with-novel-trps1-mutations
#2
Jordana L Gilman, Heather A Newman, Rebecca Freeman, Kathryn E Singh, Rebecca L Puckett, David K Morohashi, Constance Stein, Kathryn Palomino, Robert Roger Lebel, Virginia E Kimonis
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome...
March 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28219758/resolving-relationships-at-the-animal-fungal-divergence-a-molecular-phylogenetic-study-of-the-protist-trichomycetes-ichthyosporea-eccrinida
#3
Nicole K Reynolds, Matthew E Smith, Eric D Tretter, Justin Gause, Dustin Heeney, Matías J Cafaro, James F Smith, Stephen J Novak, William A Bourland, Merlin M White
Trichomycetes is a group of microorganisms that was considered a class of fungi comprising four orders of commensal, gut-dwelling endosymbionts obligately associated with arthropods. Since molecular phylogenies revealed two of those orders (Amoebidiales and Eccrinales="protist trichos") to be closely related to members of the protist class Ichthyosporea (=Mesomycetozoea), trichomycetes have been considered an ecological association of both early-diverging fungi and protists. Understanding of the taxonomy, evolution, and diversity of the protist trichos is lacking largely due to the difficulties inherent in species collection that have contributed to undersampling and understudy...
April 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28135572/dlx3-mutation-negatively-regulates-odontogenic-differentiation-of-human-dental-pulp-cells
#4
Li Zeng, Na Zhao, Dong Han, Haochen Liu, Yang Liu, Yixiang Wang, Hailan Feng
OBJECTIVES: The purpose of this study was to investigate the role of a novel mutant DLX3 on the odontogenic differentiation of human dental pulp cells (hDPCs) in tricho-dento-osseous (TDO) syndrome. DESIGN: hDPCs were obtained from the healthy premolars, stably-expressing wild-type DLX3 (WT), novel mutant DLX3 (Mu) and control vector (NC) cells were generated using recombinant lentiviruses. The proliferation rates of WT-hDPCs and Mu-hDPCs were measured by CCK8 assay...
May 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28111185/novel-frem1-mutations-in-a-patient-with-mota-syndrome-clinical-findings-mutation-update-and-review-of-frem1-related-disorders-literature
#5
REVIEW
Oscar F Chacon-Camacho, Martin Zenker, Denny Schanze, Jasbeth Ledesma-Gil, Juan C Zenteno
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28105635/dental-and-extra-oral-clinical-features-in-41-patients-with-wnt10a-gene-mutations-a-multicentric-genotype-phenotype-study
#6
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M-C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia (TOODD) and Schöpf-Schulz-Passarge Syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27984602/-analysis-of-clinical-phenotypes-and-genetic-variations-in-a-chinese-family-affected-with-craniofacial-and-skeletal-deformities
#7
Huihui Sun, Naijun Wan
OBJECTIVE: To identify pathogenic mutation in a pedigree affected with craniofacial and skeletal abnormalities featuring an autosomal dominant inheritance. METHODS: Clinical data and peripheral venous blood samples of the pedigree were collected. A total of 326 exons of skeletal disease-related genes were screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected variants were analyzed by bioinformatic software. RESULTS: A novel heterozygous mutation c...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27924851/senescence-novel-insight-into-dlx3-mutations-leading-to-enhanced-bone-formation-in-tricho-dento-osseous-syndrome
#8
Na Zhao, Dong Han, Haochen Liu, Yue Li, Sing-Wai Wong, Zhengyi Cao, Jian Xu, Xiaowei Zhang, Tao Cai, Yixiang Wang, Hailan Feng
The homeodomain transcription factor distal-less homeobox 3 gene (DLX3) is required for hair, tooth and skeletal development. DLX3 mutations have been found to be responsible for Tricho-Dento-Osseous (TDO) syndrome, characterized by kinky hair, thin-pitted enamel and increased bone density. Here we show that the DLX3 mutation (c.533 A>G; Q178R) attenuates osteogenic potential and senescence of bone mesenchymal stem cells (BMSCs) isolated from a TDO patient, providing a molecular explanation for abnormal increased bone density...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27760456/dlx3-dependent-regulation-of-ion-transporters-and-carbonic-anhydrases-is-crucial-for-enamel-mineralization
#9
Olivier Duverger, Takahiro Ohara, Paul W Bible, Angela Zah, Maria I Morasso
Patients with tricho-dento-osseous (TDO) syndrome, an ectodermal dysplasia caused by mutations in the homeodomain transcription factor DLX3, exhibit enamel hypoplasia and hypomineralization. Here we used a conditional knockout mouse model to investigate the developmental and molecular consequences of Dlx3 deletion in the dental epithelium in vivo. Dlx3 deletion in the dental epithelium resulted in the formation of chalky hypomineralized enamel in all teeth. Interestingly, transcriptomic analysis revealed that major enamel matrix proteins and proteases known to be involved in enamel secretion and maturation were not affected significantly by Dlx3 deletion in the enamel organ...
October 19, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27706911/making-extra-teeth-lessons-from-a-trps1-mutation
#10
Worawan Kunotai, Panjit Ananpornruedee, Mark Lubinsky, Apitchaya Pruksametanan, Piranit Nik Kantaputra
A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27507914/a-novel-frameshift-mutation-in-the-trps1-gene-caused-tricho-rhino-phalangeal-syndrome-type-i-and-iii-in-a-japanese-family
#11
Masatsune Itoh, Yuko Kittaka, Yo Niida, Yutaka Saikawa
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27267340/skeletal-abnormalities-of-tricho-rhino-phalangeal-syndrome-type-i
#12
Guilherme Monteiro de Barros, Adriana Maria Kakehasi
The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations...
January 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27257806/fate-mapping-of-trps1-daughter-cells-during-cardiac-development-using-novel-trps1-cre-mice
#13
Ahmed G Nomir, Yuto Takeuchi, Junji Fujikawa, Ashraf A El Sharaby, Satoshi Wakisaka, Makoto Abe
Tricho-rhino-phalangeal syndrome (TRPS) is a rare congenital disorder that is characterized by abnormal hair growth and skeletal deformities. These result in sparse hair, short stature, and early onset of joint problems. Recent reports have shown that a relatively high proportion of patients with TRPS exhibit a broad range of congenital heart defects. To determine the regulation of Trps1 transcription in vivo, we generated novel transgenic mice, which expressed Cre recombinase under the murine Trps1 proximal promoter sequence (Trps1-Cre)...
2016: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/27035375/ibd-like-features-in-syndromic-diarrhea-tricho-hepato-enteric-syndrome
#14
Veronica Busoni, Julie Lemale, Beatrice Dubern, Fernando Frangi, Patrice Bourgeois, Marina Orsi, Catherine Badens, Alexandre Fabre
BACKGROUND: Very early onset inflammatory bowel disease (VEOIBD) (IBD before 6 years of age) may manifest as a monogenic disease affecting the gastrointestinal tract. Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. METHODS: We reviewed clinical and biological data of four previously published cases and add detailed data of two new cases of SD/THE with an IBD-like presentation...
March 28, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/26969828/down-regulation-of-trps1-stimulates-epithelial-mesenchymal-transition-and-metastasis-through-repression-of-foxa1
#15
Jin-Zhou Huang, Min Chen, Ming Zeng, Song-Hui Xu, Fei-Yan Zou, De Chen, Guang-Rong Yan
The tricho-rhino-phalangeal syndrome 1 gene (TRPS1), which was initially found to be associated with tricho-rhino-phalangeal syndrome, is critical for the development and differentiation of bone, hair follicles and kidney. However, its role in cancer progression is largely unknown. In this study, we demonstrated that down-regulation of TRPS1 correlated with distant metastasis, tumour recurrence and poor survival rate in cancer patients. TRPS1 was frequently down-regulated in high-metastatic cancer cell lines from the breast, colon and nasopharynx...
June 2016: Journal of Pathology
https://www.readbyqxmd.com/read/26945392/identifying-mutations-of-the-tetratricopeptide-repeat-domain-37-ttc37-gene-in-infants-with-intractable-diarrhea-and-a-comparison-of-asian-and-non-asian-phenotype-and-genotype-a-global-case-report-study-of-a-well-defined-syndrome-with-immunodeficiency
#16
COMPARATIVE STUDY
Wen-I Lee, Jing-Long Huang, Chien-Chang Chen, Ju-Li Lin, Ren-Chin Wu, Tang-Her Jaing, Liang-Shiou Ou
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs). Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function...
March 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/26909277/high-grade-osteosarcoma-on-a-background-of-trichorhinophalangeal-syndrome-a-family-perspective
#17
Scott Evans, Paul Brewer, Sumathi Vaiyapuri, Robert Grimer
Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder with typical craniofacial and skeletal abnormalities. Three main subtypes have been described. All variations of the condition affect the hair (tricho), nose (rhino) and fingers (phalangeal). The diagnosis is usually made through clinical examination augmented by hand radiographs that reveal characteristic cone-shaped epiphyses Sporadic case reports detailing TRPS have been described in the literature. We describe the first report of high-grade osteosarcoma presenting in two members of the same family with trichorhinophalangeal syndrome (TRPS)...
June 2013: Journal of Bone Oncology
https://www.readbyqxmd.com/read/26836061/dlx3-negatively-regulates-osteoclastic-differentiation-through-microrna-124
#18
Na Zhao, Dong Han, Yang Liu, Yue Li, Li Zeng, Yixiang Wang, Hailan Feng
Homeodomain gene Distal-less-3 (DLX3) plays an essential role in the development of bones. Mutations of DLX3 are closely associated with Tricho-Dento-Osseous (TDO) syndrome featured with increased bone formation. However, the mechanism regarding whether DLX3 regulates osteoclastogenesis remains largely unknown. In this study, we firstly examined the expression of DLX3 mounting during osteoclastic differentiation process, and then established stably expressing wild type DLX3 (WT-DLX3), a novel mutant DLX3 (Q178R) found in our laboratory recently (MT-DLX3) and Dlx3 knockdown cell lines (Dlx3-shRNA) in Raw 264...
February 15, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/26183398/nuclear-cathepsin-d-enhances-trps1-transcriptional-repressor-function-to-regulate-cell-cycle-progression-and-transformation-in-human-breast-cancer-cells
#19
Anne-Sophie Bach, Danielle Derocq, Valérie Laurent-Matha, Philippe Montcourrier, Salwa Sebti, Béatrice Orsetti, Charles Theillet, Céline Gongora, Sophie Pattingre, Eva Ibing, Pascal Roger, Laetitia K Linares, Thomas Reinheckel, Guillaume Meurice, Frank J Kaiser, Christian Gespach, Emmanuelle Liaudet-Coopman
The lysosomal protease cathepsin D (Cath-D) is overproduced in breast cancer cells (BCC) and supports tumor growth and metastasis formation. Here, we describe the mechanism whereby Cath-D is accumulated in the nucleus of ERα-positive (ER+) BCC. We identified TRPS1 (tricho-rhino-phalangeal-syndrome 1), a repressor of GATA-mediated transcription, and BAT3 (Scythe/BAG6), a nucleo-cytoplasmic shuttling chaperone protein, as new Cath-D-interacting nuclear proteins. Cath-D binds to BAT3 in ER+ BCC and they partially co-localize at the surface of lysosomes and in the nucleus...
September 29, 2015: Oncotarget
https://www.readbyqxmd.com/read/26113321/painless-lumps-in-the-proximal-interphalangeal-joints-in-tricho-rhino-phalangeal-syndrome-type-1
#20
Takako Miyamae, Gen Nishimura, Takayuki Kishi, Yutaka Shimomura, Hisashi Yamanaka
No abstract text is available yet for this article.
June 2015: Pediatrics International: Official Journal of the Japan Pediatric Society
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