Results 151 to 160 of about 9,465 (268)

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant

Scientific Reports
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of ...
Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto   +16 more
doaj   +1 more source

The loss of stability of a naturally occurring ATP7A mutant is the cause of Menkes disease

, 2005
Lucia Banci, Ivano Bertini, Francesca Cantini, Manuele Migliardi, A. Rosato, S. Wang   +5 more
openalex   +1 more source

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]

, 2017
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

ATP7A Gene [PDF]

, 2020
openaire   +1 more source

Ammonium tetrathiomolybdate treatment targets the copper transporter ATP7A and enhances sensitivity of breast cancer to cisplatin

, 2016
Cristine Chisholm, Haitao Wang, Ada Hang‐Heng Wong, Guelaguetza Vázquez-Ortíz, Weiping Chen, Xiaoling Xu, Chu‐Xia Deng   +6 more
openalex   +2 more sources

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome [PDF]

, 2000
Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Tilbæk Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn   +8 more
openalex   +1 more source

ATP7A wt Allele [PDF]

, 2020
openaire   +1 more source

Translational read‐through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease

, 2009
Stephen G. Kaler, Jingrong Tang, Anthony Donsante, Christine R. Kaneski   +3 more
openalex   +1 more source

SA100. Abnormalities in Copper Transporters ATP7A and CTR1 in Postmortem Substantia Nigra in Schizophrenia [PDF]

, 2017
Kirsten E. Schoonover, Rosalinda C. Roberts   +1 more
openalex   +1 more source

Cellular signals of cisplatin ototoxicity [PDF]

, 2011
Three separate theories of inhibiting cisplatin-induced apoptosis were investigated utilizing different cellular mechanisms. Specifically, the copper transport cycle, TRPV1, and the JNK pathway were inhibited and immunohistochemistry was performed to ...
Yarnell, Lindsey M
core   +1 more source