Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Heloísa G Dos Santos"'
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Akademický článek
Possible involvement of zinc transporter ZIP13 in myogenic differentiation
Autor: Masaki Shoji, Takuto Ohashi, Saki Nagase, Haato Yuri, Kenta Ichihashi, Teruhisa Takagishi, Yuji Nagata, Yuki Nomura, Ayako Fukunaka, Sae Kenjou, Hatsuna Miyake, Takafumi Hara, Emi Yoshigai, Yoshio Fujitani, Hidetoshi Sakurai, Heloísa G. dos Santos, Toshiyuki Fukada, Takashi Kuzuhara
Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Ehlers–Danlos syndrome spondylodysplastic type 3 (EDSSPD3, OMIM 612350) is an inherited recessive connective tissue disorder that is caused by loss of function of SLC39A13/ZIP13, a zinc transporter belonging to the Slc39a/ZIP family. We pr
Externí odkaz: https://doaj.org/article/66db52930fec4ff4bbbebbc1c0f96d83
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2
Akademický článek
Role of Scl39a13/ZIP13 in cardiovascular homeostasis.
Autor: Takafumi Hara, Ikuko Yamada, Takuto Ohashi, Masaru Tamura, Atsushi Hijikata, Takashi Watanabe, Minghao Gao, Kana Ito, Saeko Kawamata, Shiori Azuma, Emi Yoshigai, Yukiko Sumiyoshi, Natsumi Yasuhiro, Osamu Ohara, Heloísa G Dos Santos, Toshiyuki Fukada
Publikováno v: PLoS ONE, Vol 17, Iss 10, p e0276452 (2022)
Zinc plays a critical role in many physiological processes, and disruption of zinc homeostasis induces various disorders, such as growth retardation, osteopenia, immune deficiency, and inflammation. However, how the imbalance in zinc homeostasis lead
Externí odkaz: https://doaj.org/article/fe8a6be096984458be8a07a08c403147
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4
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
Autor: Christine Bole-Feysot, Deborah Bartholdi, Heloísa G. dos Santos, Martine Le Merrer, Stavit A. Shalev, Valérie Cormier-Daire, Denise P. Cavalcanti, Joelle Roume, Eissa Faqeih, Zvi Borochowitz, Anne-Lise Delezoide, Andrea Superti-Furga, Amandine Frigo, Patrick Nitschke, Arnold Munnich, Céline Huber
Publikováno v: The American Journal of Human Genetics. 92(1):144-149
Opsismodysplasia (OPS) is a severe autosomal-recessive chondrodysplasia characterized by pre- and postnatal micromelia with extremely short hands and feet. The main radiological features are severe platyspondyly, squared metacarpals, delayed skeletal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b75a98fbdd2badff5cbb09b71e4f5f
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5
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Autor: Yanick J. Crow, Gwendoline Pfennig, Miranda Splitt, David Geneviève, Elisabeth Flori, Carine Le Goff, Valérie Drouin-Garraud, Deborah Krakow, Andrea Superti-Furga, Jane A. Hurst, Koenraad Devriendt, Clémentine Mahaut, Sally Ann Lynch, Sahar Mansour, Arnold Munnich, Isabelle Pressac-Diebold, Sheila Unger, Nathalie Dagoneau, Martine Le Merrer, Klaske D Lichtenbelt, Denise Williams, Raoul C.M. Hennekam, Heloísa G. dos Santos, Kay D. MacDermot, Angela F. Brady, Valérie Cormier-Daire, André Mégarbané, Stanislas Lyonnet, Slimane Allali, Yasemin Alanay
Publikováno v: JOURNAL OF MEDICAL GENETICS, 48(6), 417-421. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.417. 〈10.1136/jmg.2010.087544〉
Journal of medical genetics, 48(6), 417-421. BMJ Publishing Group
Journal of Medical Genetics, vol. 48, no. 6, pp. 417-421
Journal of Medical Genetics, 48(6), 417-421. BMJ Publishing Group
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753a4819aacb8cc1392c7a66d85927bc
https://hdl.handle.net/11245/1.362178
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6
PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
Autor: Dario Mizrachi, Abhimanyu Garg, Maria Dolores Hernandez, Anil K. Agarwal, Heloísa G. dos Santos, Chao Xing, George N. DeMartino, Ana Berta Sousa, Laura Martínez de Villarreal
Publikováno v: The American Journal of Human Genetics. 87:866-872
We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipod
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c29e6d177c70d2bb2fedccbfd590976
https://doi.org/10.1016/j.ajhg.2010.10.031
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7
An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy
Autor: Oralia Barboza, Laura Martínez de Villarreal, Heloísa G. dos Santos, Abhimanyu Garg, Lalitha Subramanyam, Maria Dolores Hernandez, Ana Berta Sousa
Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 95:E58-E63
Context: Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acantho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61592e4bea264d7a4a0de8efba4352e3
https://doi.org/10.1210/jc.2010-0488
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8
Phenotypic Heterogeneity in Body Fat Distribution in Patients with Atypical Werner’s Syndrome Due to Heterozygous Arg133Leu Lamin A/C Mutation
Autor: Katherine N. Jacob, Junko Oshima, Heloísa G. dos Santos, Anil K. Agarwal, Abhimanyu Garg, Fernando Baptista
Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 90:6699-6706
Context:A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C protein has been reported in two young women with clinical features of short stature, bird-like faces, and early onset of aging processes. Obje
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a96cb081499188bb4cd0bd8accd9d998
https://doi.org/10.1210/jc.2005-0939
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9
LMNA mutations in atypical Werner's syndrome
Autor: Yousef Shafeghati, Junko Oshima, Abhimanyu Garg, Eleanor G. Botha, Brian K. Kennedy, Heloísa G. dos Santos, Nancy B. Hanson, Lin Lee, George M. Martin, Olav Sletvold, Lishan Chen, I. Saira Mian, Brian A. Kudlow
Publikováno v: The Lancet. 362:440-445
Summary Background Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d50a9a75fc231257054a9038c8402e1
https://doi.org/10.1016/s0140-6736(03)14069-x
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10
Akademický článek
Possible involvement of zinc transporter ZIP13 in myogenic differentiation.
Autor: Shoji, Masaki1 (AUTHOR) masaki-shoji@ph.bunri-u.ac.jp, Ohashi, Takuto2 (AUTHOR), Nagase, Saki1 (AUTHOR), Yuri, Haato1 (AUTHOR), Ichihashi, Kenta1 (AUTHOR), Takagishi, Teruhisa2 (AUTHOR), Nagata, Yuji2 (AUTHOR), Nomura, Yuki2 (AUTHOR), Fukunaka, Ayako3 (AUTHOR), Kenjou, Sae2 (AUTHOR), Miyake, Hatsuna2 (AUTHOR), Hara, Takafumi2 (AUTHOR), Yoshigai, Emi2 (AUTHOR), Fujitani, Yoshio3 (AUTHOR), Sakurai, Hidetoshi4 (AUTHOR), dos Santos, Heloísa G.5 (AUTHOR), Fukada, Toshiyuki2 (AUTHOR) fukada@ph.bunri-u.ac.jp, Kuzuhara, Takashi1 (AUTHOR) kuzuhara@ph.bunri-u.ac.jp
Publikováno v: Scientific Reports. 4/12/2024, Vol. 14 Issue 1, p1-15. 15p.
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