Works matching DE "KINKY hair syndrome"

Results: 84

Research highlights.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 8, p. 866, doi. 10.1038/nsmb0811-866

By:

Chen, Inês;
Heinrichs, Arianne;
Lall, Sabbi;
Mason, Steve

Publication type:

Article

Structural biology: A platform for copper pumps.

Published in:

Nature, 2011, v. 475, n. 7354, p. 41, doi. 10.1038/475041a

By:

Robinson, Nigel J.

Publication type:

Article

Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?

Published in:

Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/358605

By:

Tümer, Zeynep

Publication type:

Article

Menkes Disease Presenting with Epilepsia Partialis Continua.

Published in:

Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/525784

By:

Rizk, Tamer;
Mahmoud, Adel;
Jamali, Tahani;
Al-Mubarak, Salah

Publication type:

Article

Canine Models for Copper Homeostasis Disorders.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 196, doi. 10.3390/ijms17020196

By:

Xiaoyan Wu;
Leegwater, Peter A. J.;
Fieten, Hille

Publication type:

Article

Novel <em>ATP7A </em>gene mutation in a patient with Menkes disease.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 151, doi. 10.2147/TACG.S180087

By:

Caicedo-Herrera, Gabriela;
Candelo, Estephania;
Pinilla, Juan;
Vidal, Andrés;
Cruz, Santiago;
Pachajoa, Harry Mauricio

Publication type:

Article

Clinical expression of Menkes disease in females with normal karyotype.

Published in:: Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 6, doi. 10.1186/1750-1172-7-6
Publication type:: Article

Copper dyshomoeostasis in Parkinson's disease: implications for pathogenesis and indications for novel therapeutics.

Published in:

Clinical Science, 2016, v. 130, n. 8, p. 565, doi. 10.1042/CS20150153

By:

Davies, Katherine M.;
Mercera, Julian F. B.;
Nicholas Chen;
Double, Kay L.

Publication type:

Article

Survey the Prevalence Level of Congenital Hypothyroidism Kinds (Transient and Permanent) and its Related Factors in Children of Kurdistan Provinces in 2005 to 2011.

Published in:

Egyptian Academic Journal of Biological Sciences E Medical Entomology & Parasitology, 2018, v. 10, n. 1, p. 63, doi. 10.21608/eajbse.2018.14461

By:

Fatollahpour, Asadolah;
Eskandarifar, Alireza;
mohamadbeigi, Robabeh;
Karbassi, Golaleh

Publication type:

Article

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy.

Published in:

2004

By:

Sasaki, Goro;
Ishii, Tomohiro;
Sato, Seiji;
Hoshino, Ken;
Morikawa, Yasuhide;
Kodama, Hiroko;
Matsuo, Nobutake;
Takahashi, Takao;
Hasegawa, Tomonobu

Publication type:

journal article

MENKES DISEASE.

Published in:

2016

By:

Agarkhedkar, Sharad;
Karambelkar, Geeta;
Salunkhe, Shraddha;
Baracho, Bonny

Publication type:

Letter to the Editor

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease.

Published in:

Turkish Journal of Hematology, 2019, v. 36, n. 3, p. 203, doi. 10.4274/tjh.galenos.2018.2018.0104

By:

Sayın, Seçil;
Ünal, Şule;
Çetin, Mualla;
Gümrük, Fatma

Publication type:

Article

Occipital horn syndrome in a woman: skeletal radiological findings.

Published in:

2011

By:

Bazzocchi, Alberto;
Femia, Rayka;
Feraco, Paola;
Battista, Giuseppe;
Canini, Romeo;
Guglielmi, Giuseppe

Publication type:

journal article

Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington's Disease.

Published in:

Cerebellum, 2015, v. 14, n. 6, p. 707, doi. 10.1007/s12311-015-0678-4

By:

Sakai, Kenji;
Ishida, Chiho;
Morinaga, Akiyoshi;
Takahashi, Kazuya;
Yamada, Masahito

Publication type:

Article

Menkes disease -- A rare case report.

Published in:

National Journal of Physiology, Pharmacy & Pharmacology, 2017, v. 7, n. 12, p. 1447, doi. 10.5455/njppp.2018.8.0725221072017

By:

Thomas, Preenumol;
Mathew, Meenu;
P. R., Roshni

Publication type:

Article

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.

Published in:

Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0147-5

By:

Dongkyu Kim;
Jieun Choi;
Kyu-Min Han;
Beom Hee Lee;
Jin-Ho Choi;
Han-Wook Yoo;
Yong-Mahn Han

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 517, doi. 10.1038/ejhg.2013.191

By:

Yasmeen, Saiqa;
Lund, Katrine;
De Paepe, Anne;
De Bie, Sylvia;
Heiberg, Arvid;
Silva, João;
Martins, Márcia;
Skjørringe, Tina;
Møller, Lisbeth B

Publication type:

Article

Clinical utility gene card for: Menkes disease.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.56

By:

Tümer, Zeynep;
Klomp, Leo

Publication type:

Article

Menkes disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 5, p. 511, doi. 10.1038/ejhg.2009.187

By:

Tümer, Zeynep;
Møller, Lisbeth B

Publication type:

Article

Estado actual de la enfermedad de Menkes en México.

Published in:

Salud Pública de México, 2012, v. 54, n. 2, p. 103

By:

León-García, Gregorio;
Dávila-Gutiérrez, Guillermo;
Baeza, Isabel

Publication type:

Article

Lethal neonatal Menkes' disease with severe vasculopathy and fractures.

Published in:

1998

By:

Jankov, RP;
Boerkoel, CF;
Hellmann, J;
Sirkin, WL;
Tümer, Z;
Horn, N;
Feigenbaum, A;
Jankov, R P;
Boerkoel, C F;
Sirkin, W L;
Tümer, Z

Publication type:

journal article

Enfermedad de Menkes.

Published in:

MedUNAB, 2010, v. 13, n. 3, p. 169

By:

Suárez, Harold Leonardo Londoño

Publication type:

Article

Menkes disease: what a multidisciplinary approach can do.

Published in:

Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 371, doi. 10.2147/JMDH.S93454

By:

Ojha, Rahul;
Prasad, Asuri N.

Publication type:

Article

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 548, doi. 10.1111/cge.13083

By:

Tümer, Z.;
Petris, M.;
Zhu, S.;
Mercer, J.;
Bukrinski, J.;
Bilz, S.;
Baerlocher, K.;
Horn, N.;
Møller, L.B

Publication type:

Article

Twenty-five novel mutations including duplications in the ATP7A gene.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 243, doi. 10.1111/j.1399-0004.2010.01461.x

By:

Moizard, M.-P.;
Ronce, N.;
Blesson, S.;
Bieth, E.;
Burglen, L.;
Mignot, C.;
Mortemousque, I.;
Marmin, N.;
Dessay, B.;
Danesino, C.;
Feillet, F.;
Castelnau, P.;
Toutain, A.;
Moraine, C.;
Raynaud, M.

Publication type:

Article

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

Published in:

Clinical Genetics, 2011, v. 79, n. 2, p. 176, doi. 10.1111/j.1399-0004.2010.01451.x

By:

Desai, V.;
Donsante, A.;
Swoboda, K. J.;
Martensen, M.;
Thompson, J.;
Kaler, S. G.

Publication type:

Article

Genetics Corner: Menkes Disease in an Infant who Presented with Recurrent Infections.

Published in:

2022

By:

Clark, Robin Dawn

Publication type:

Case Study

Design and synthesis of a fluorescent probe based on naphthalene anhydride and its detection of copper ions.

Published in:

PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186994

By:

He, Guangjie;
Liu, Chenxi;
Liu, Xiaobo;
Wang, Qingzhi;
Fan, Aiying;
Wang, Songjun;
Qian, Xinlai

Publication type:

Article

The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

Published in:

Cellular & Molecular Life Sciences, 2012, v. 69, n. 1, p. 149, doi. 10.1007/s00018-011-0743-1

By:

Vonk, Willianne;
Bie, Prim;
Wichers, Catharina;
den Berghe, Peter;
Plaats, Rozemarijn;
Berger, Ruud;
Wijmenga, Cisca;
Klomp, Leo;
Sluis, Bart

Publication type:

Article

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Published in:

Applied Microscopy, 2021, v. 51, n. 1, p. 1, doi. 10.1186/s42649-021-00067-6

By:

Bhattarai, Dharmagat;
Banday, Aaqib Zaffar;
Sadanand, Rohit;
Arora, Kanika;
Kaur, Gurjit;
Sharma, Satish;
Rawat, Amit

Publication type:

Article

Menkes disease and response to copper histidine: An Indian case series.

Published in:

Annals of Indian Academy of Neurology, 2017, v. 20, n. 1, p. 62, doi. 10.4103/0972-2327.199907

By:

Yoganathan, Sangeetha;
Thomas, Maya;
Sudhakar, Sniya Valsa;
Arunachal, Gautham;
Danda, Sumita;
Subramanian, Annadurai;
George, Renu

Publication type:

Article

An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 1, p. 57, doi. 10.4103/jpn.JPN_141_18

By:

Tayal, Anshula;
Elwadhi, Aman;
Sharma, Suvasini;
Patra, Bijoy

Publication type:

Article

Wormian bones and dilated scalp veins in an infant with epilepsy.

Published in:

Journal of Pediatric Neurosciences, 2019, v. 14, n. 2, p. 103, doi. 10.4103/jpn.JPN_151_18

By:

Randhawa, Manjinder;
Dhawan, Sumeet;
Kumar, Sugantha;
Singanamala, Bhanudeep;
Bhatia, Anmol;
Saini, Lokesh;
Sankhyan, Naveen

Publication type:

Article

Neuroimaging in Menkes Disease.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 4, p. 378, doi. 10.4103/jpn.JPN_20_17

By:

Ahmed, Molla I.;
Hussain, Nahin

Publication type:

Article

Menkes disease -- An important cause of early onset refractory seizures.

Published in:

Journal of Pediatric Neurosciences, 2014, v. 9, n. 1, p. 11, doi. 10.4103/1817-1745.131471

By:

Jain, Puneet;
Kannan, Lakshminarayanan;
Chakrabarty, Biswaroop;
Kumar, Atin;
Gupta, Neerja;
Kabra, Madhulika;
Gulati, Sheffali

Publication type:

Article

Reversible temporal lobe edema: An early MRI finding in Menkes disease.

Published in:

2012

By:

Ekici, Barış;
Çalışkan, Mine;
Tatlı, Burak

Publication type:

Letter

Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.

Published in:

Pediatric Radiology, 2012, v. 42, n. 11, p. 1301, doi. 10.1007/s00247-012-2457-4

By:

Hill, Suvimol;
Dwyer, Andrew;
Kaler, Stephen

Publication type:

Article

Long-term skeletal findings in Menkes disease.

Published in:

Pediatric Radiology, 2010, v. 40, n. 8, p. 1426, doi. 10.1007/s00247-010-1551-8

By:

Amador, Eva;
Domene, Ruth;
Fuentes, Cristian;
Carreño, Juan-Carlos;
Enríquez, Goya

Publication type:

Article

Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.

Published in:

Journal of Neuroimaging, 2011, v. 21, n. 2, p. e114, doi. 10.1111/j.1552-6569.2010.00476.x

By:

Cosimo, Quattrocchi Carlo;
Daniela, Longo;
Elsa, Bevivino;
Carlo, Dionisi-Vici;
Giuseppe, Fariello

Publication type:

Article

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease.

Published in:

Case Reports in Radiology, 2012, p. 1, doi. 10.1155/2012/684309

By:

Gandhi, Rozil;
Kakkar, Ritu;
Rajan, Sajeev;
Bhangale, Rashmi;
Desai, Shrinivas

Publication type:

Article

The role of insufficient copper in lipid synthesis and fatty-liver disease.

Published in:

IUBMB Life, 2017, v. 69, n. 4, p. 263, doi. 10.1002/iub.1613

By:

Morrell, Austin;
Tallino, Savannah;
Yu, Lei;
Burkhead, Jason L.

Publication type:

Article

Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 3, p. 135, doi. 10.4274/tnd.galenos.2019.82608

By:

Üstkoyuncu, Pembe Soylu;
Güven, Ahmet Sami;
Poyrazoğlu, Hatice Gamze;
Gökay, Songül;
Kardaş, Fatih;
Kendirci, Mustafa;
Gökçek, İkbal;
Torun, Yasemin Altuner

Publication type:

Article

Haemolysis and Perturbations in the Systemic Iron Metabolism of Suckling, Copper-Deficient Mosaic Mutant Mice – An Animal Model of Menkes Disease.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107641

By:

Lenartowicz, Małgorzata;
Starzyński, Rafał R.;
Krzeptowski, Wojciech;
Grzmil, Paweł;
Bednarz, Aleksandra;
Ogórek, Mateusz;
Pierzchała, Olga;
Staroń, Robert;
Gajowiak, Anna;
Lipiński, Paweł

Publication type:

Article

Conditional Knockout of the Menkes Disease Copper Transporter Demonstrates Its Critical Role in Embryogenesis.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043039

By:

Yanfang Wang;
Sha Zhu;
Weisman, Gary A.;
Gitlin, Jonathan D.;
Petris, Michael J.;
Ellis, Steven R.

Publication type:

Article

Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040400

By:

Lenartowicz, Małgorzata;
Krzeptowski, Wojciech;
Koteja, Paweł;
Chrząścik, Katarzyna;
Møller, Lisbeth Birk

Publication type:

Article

Splice Site Mutations in the ATP7A Gene.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018599

By:

Skjørringe, Tina;
Tümer, Zeynep;
Møller, Lisbeth Birk

Publication type:

Article

De Novo Mutation in ATP7A Gene with Severe Menkes Disease.

Published in:

2018

By:

Üstkoyuncu1, Pembe Soylu;
Güven, Ahmet Sami;
Kiraz, Aslıhan;
Yılmaz, Ayşegül;
Bozdemir, Şefika Elmas;
Gökay, Songül

Publication type:

Case Study

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1123, doi. 10.1007/s11011-017-9985-4

By:

Cao, Binbin;
Yang, Xiaoping;
Chen, Yinyin;
Huang, Qionghui;
Wu, Ye;
Gu, Qiang;
Xiao, Jiangxi;
Yang, Huixia;
Pan, Hong;
Chen, Junya;
Sun, Yu;
Ren, Li;
Zhao, Chengfeng;
Deng, Yanhua;
Yang, Yanling;
Chang, Xingzhi;
Yang, Zhixian;
Zhang, Yuehua;
Niu, Zhengping;
Wang, Juli

Publication type:

Article

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1173, doi. 10.1007/s11011-017-0010-8

By:

Gemmis, Paola;
Enzo, Maria;
Lorenzetto, Elisa;
Cattelan, Paola;
Segat, Daniela;
Hladnik, Uros

Publication type:

Article

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Published in:

Metabolic Brain Disease, 2015, v. 30, n. 1, p. 75, doi. 10.1007/s11011-014-9569-5

By:

Kim, Ja;
Lee, Beom;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Cheon, Chong;
Yoo, Han-Wook

Publication type:

Article