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Menkes Syndrome
Author / Creator:Knutel, Terri
Journal title:The Gale Encyclopedia of Genetic Disorders: G-O, 2022, p.1192-1195
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Menkes Syndrome
Author / Creator:Knutel, Terri
Journal title:The Gale Encyclopedia of Genetic Disorders: F-O, 2016, p.1147-1151
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ArticlesPeer ReviewedFull Text
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Author / Creator:Yasmeen, Saiqa ; Lund, Katrine ; De Paepe, Anne ; De Bie, Sylvia ; Heiberg, Arvid ; Silva, João ; Martins, Márcia ; Skjørringe, Tina ; Møller, Lisbeth B
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.517-521
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Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome
Author / Creator:Hui, Wun Fung ; Hon, Kam Lun ; Leung, Alexander K. C. ; Pang, Kristine Kit Yi ; Leung, Michael Wai Yip
Publisher:New York: Hindawi
Journal title:Case reports in pediatrics, 2021-08, Vol.2021, p.1-4
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ArticlesPeer ReviewedFull Text
The molecular mechanisms of copper metabolism and its roles in human diseases
Author / Creator:Chen, Ji ; Jiang Yunhui ; Shi, Hua ; Peng Yougong ; Fan Xueying ; Li, Chenghua
Publisher:Heidelberg: Springer Nature B.V
Journal title:Pflügers Archiv, 2020-10, Vol.472 (10), p.1415-1429
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Menkes syndrome
Publisher:Oxford University Press
Journal title:A Dictionary of Food and Nutrition, 2014
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ArticlesPeer ReviewedFull Text
Predictable and precise template-free CRISPR editing of pathogenic variants
Author / Creator:Shen, Max W. ; Arbab, Mandana ; Hsu, Jonathan Y. ; Worstell, Daniel ; Culbertson, Sannie J. ; Krabbe, Olga ; Cassa, Christopher A. ; Liu, David R. ; Gifford, David K. ; Sherwood, Richard I.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2018-11, Vol.563 (7733), p.646-651
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Menkes syndrome
Author / Creator:Knutel, Terri
Journal title:Gale Encyclopedia of Genetic Disorders, 2010
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ArticlesPeer ReviewedFull Text
Cuproptosis: Unraveling the Mechanisms of Copper-Induced Cell Death and Its Implication in Cancer Therapy
Author / Creator:Springer, Chloe ; Humayun, Danish ; Skouta, Rachid
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2024-02, Vol.16 (3), p.647
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Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain
Author / Creator:Washington-Hughes, Clorissa L. ; Roy, Shubhrajit ; Seneviratne, Herana Kamal ; Karuppagounder, Senthilkumar S. ; Morel, Yulemni ; Jones, Jace W. ; Zak, Alex ; Xiao, Tong ; Boronina, Tatiana N. ; Cole, Robert N. ; Bumpus, Namandjé N. ; Chang, Christopher J. ; Dawson, Ted M. ; Lutsenko, Svetlana
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2023-01, Vol.19 (1), p.e1010558
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Newsletter articlesFull Text
What is Menkes syndrome?
Publisher:Miami: ContentEngine LLC, a Florida limited liability company
Journal title:CE Noticias Financieras, 2023
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ArticlesPeer ReviewedFull Text
ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle
Author / Creator:Horn, Nina ; Wittung-Stafshede, Pernilla
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2021-04, Vol.9 (4), p.391
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Reference EntriesFull Text
Menkes syndrome
Publisher:Oxford University Press
Journal title:A Dictionary of Food and Nutrition, 2009
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ArticlesPeer ReviewedFull Text
Growing skull fracture at birth: a rare presentation of Menkes disease
Author / Creator:McPherson, Helen ; Prentice, Katie ; Fowlie, Peter W ; Gallo, Pasquale ; Brink, Philippus ; Main, Gavin ; Goudie, David ; Cozens, Alison ; Bhushan, Shetty
Publisher:England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2019-11, Vol.104 (11), p.1112-1113
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ArticlesPeer ReviewedFull Text
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Author / Creator:Matsumoto, Ayumi ; Kano, Shintaro ; Kobayashi, Natsumi ; Matsuki, Mitsuru ; Furukawa, Rieko ; Yamagishi, Hirokazu ; Yoshinari, Hiroki ; Nakata, Waka ; Wakabayashi, Hiroko ; Tsuda, Hidetoshi ; Watanabe, Kazuhisa ; Takahashi, Hironori ; Yamagata, Takanori ; Matsumura, Takayoshi ; Osaka, Hitoshi ; Mori, Harushi ; Iwamoto, Sadahiko
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-01, Vol.14 (1), p.440-9, Article 440
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ArticlesPeer ReviewedFull Text
Cuprizone-induced Demyelination in Mouse Brain is not due to Depletion of Copper
Author / Creator:Morgan, Megan L. ; Teo, Wulin ; Hernandez, Yda ; Brideau, Craig ; Cummins, Karen ; Kuipers, Hedwich F. ; Stys, Peter K.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:ASN neuro, 2022, Vol.14 (1), p.17590914221126367
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ArticlesPeer ReviewedFull Text
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated...
Author / Creator:Zou, Weiwei ; Li, Min ; Wang, Xiaolei ; Lu, Hedong ; Hao, Yan ; Chen, Dawei ; Zhu, Shasha ; Ji, Dongmei ; Zhang, Zhiguo ; Zhou, Ping ; Cao, Yunxia
Publisher:New York: Springer Nature B.V
Journal title:Journal of assisted reproduction and genetics, 2024-05, Vol.41 (5), p.1245-1259
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Menkes Syndrome
Author / Creator:Knutel, Terri
Journal title:Gale Encyclopedia of Genetic Disorders, 2005, Vol.2, p.805-809
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Ethics in pre-ART genetics: a missed X-linked Menkes disease case
Author / Creator:Gerdes, A.-M. A ; Møller, L. Birk ; Horn, N
Publisher:New York: Springer Nature B.V
Journal title:Journal of assisted reproduction and genetics, 2023-04, Vol.40 (4), p.811-816
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Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease
Author / Creator:Yamagishi, Yoshiaki ; Kudo, Toshiyuki ; Oyumi, Masafumi ; Sakamoto, Yusuke ; Takahashi, Kazuki ; Akashi, Taiki ; Kobayashi, Shohei ; Kawakami, Takeaki ; Goda, Hitomi ; Sato, Yasuhiro ; Mimaki, Masakazu ; Kodama, Hiroko ; Munakata, Mitsutoshi ; Makino, Kosho ; Takahashi, Hideyo ; Fukami, Toshiro ; Ito, Kiyomi
Publisher:New York: Springer US
Journal title:Pharmaceutical research, 2021-08, Vol.38 (8), p.1335-1344
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Menkes Syndrome

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Menkes Syndrome

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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

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Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome

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The molecular mechanisms of copper metabolism and its roles in human diseases

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Menkes syndrome

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Predictable and precise template-free CRISPR editing of pathogenic variants

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Menkes syndrome

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Cuproptosis: Unraveling the Mechanisms of Copper-Induced Cell Death and Its Implication in Cancer Therapy

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Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain

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What is Menkes syndrome?

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ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle

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Menkes syndrome

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Growing skull fracture at birth: a rare presentation of Menkes disease

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

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Cuprizone-induced Demyelination in Mouse Brain is not due to Depletion of Copper

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Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated...

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Menkes Syndrome

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Ethics in pre-ART genetics: a missed X-linked Menkes disease case

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Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease

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