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

Zinc transporter ZIP13 is involved in myogenic differentiation: establishment of Ehlers– Danlos syndrome spondylodysplastic type 3 induced pluripotent stem cells

Autor: Masaki Shoji, Takuto Ohashi, Saki Nagase, Kenta Ichihashi, Teruhisa Takagishi, Yuji Nagata, Yuki Nomura, Takafumi Hara, Emi Yoshigai, Ayako Fukunaka, Yoshio Fujitani, Hidetoshi Sakurai, Heloísa G. dos Santos, Toshiyuki Fukada, Takashi Kuzuhara

Ehlers–Danlos syndrome spondylodysplastic type 3 (EDSSPD3, OMIM 612350) is an inherited recessive connective tissues disease caused by loss of function of SLC39A13/ZIP13, a zinc transporter belonging to the Slc39a/ZIP family. Patients with EDSSPD3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::44173a8bf822258127ac10d2c4c718da
https://doi.org/10.21203/rs.3.rs-2254747/v1

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

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

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