Works matching DE "KINKY hair syndrome"

Results: 85

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

Epilepsy secondary to Menkes' disease: five cases report and review of literature.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 12, p. 1074, doi. 10.3969/j.issn.1672-6731.2014.12.010

By:

ZHANG Pei-yuan;
ZHANG Yu-qin

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

Eyelash involvement in acquired progressive kinking of the hair.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 5, p. 562, doi. 10.1111/j.1365-2230.2011.04243.x

By:

Urbina, F.

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

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

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

Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00068

By:

Lenartowicz, Malgorzata;
Moos, Torben;
Ogórek, Mateusz;
Jensen, Thomas G.;
Møller, Lisbeth B.

Publication type:

Article

Mottled Mice and Non-Mammalian Models of Menkes Disease.

Published in:

Frontiers in Molecular Neuroscience, 2015, p. 1, doi. 10.3389/fnmol.2015.00072

By:

Lenartowicz, Małgorzata;
Krzeptowski, Wojciech;
Lipiński, Paweł;
Grzmil, Paweł;
Starzyński, Rafał;
Pierzchała, Olga;
Møller, Lisbeth Birk;
Ghose, Aurnab;
Padinjat, Raghu

Publication type:

Article

Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.

Published in:

Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00048

By:

van Veen, Sarah;
Sørensen, Danny M.;
Holemans, Tine;
Holen, Henrik W.;
Palmgren, Michael G.;
Vangheluwe, Peter

Publication type:

Article

Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review.

Published in:

2010

By:

Okada, Tadao;
Sasaki, Fumiaki;
Honda, Shohei;
Miyagi, Hisayuki;
Kubota, Mitsuru;
Todo, Satoru

Publication type:

Case Study

Enfermedad de Menkes.

Published in:

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

By:

Suárez, Harold Leonardo Londoño

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

MENKES DISEASE.

Published in:

2016

By:

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

Publication type:

Letter to the Editor

Whisker Hair (Acquired Progressive Kinking of the Hair): An Indication for Finasteride 1 mg?

Published in:

2016

By:

Bagazgoitia, Lorea;
Aboín, Sonsoles

Publication type:

Case Study

Trichonodosis.

Published in:

2014

By:

Kumaresan, M.;
Deepa, M. S.

Publication type:

Case Study

Neurodegenerative Disorders with Hair Abnormalities: An Emergency Room Consultation for Dermatologists.

Published in:

International Journal of Trichology, 2009, v. 1, n. 1, p. 30, doi. 10.4103/0974-7753.51929

By:

Inamadar, Arun C.;
Palit, Aparna

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

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Published in:

Folia Biologica (00155500), 2017, v. 63, n. 5/6, p. 165, doi. 10.14712/fb2017063050165

By:

KRÁLÍK, L.;
FLACHSOVÁ, E.;
HANSÍKOVÁ, H.;
SAUDEK, V.;
ZEMAN, J.;
MARTÁSEK, P.

Publication type:

Article

Ethylene Captures a Metal! Metal Ions Are Involved in Ethylene Perception and Signal Transduction.

Published in:

Plant & Cell Physiology, 2000, v. 41, n. 5, p. 548, doi. 10.1093/pcp/41.5.548

By:

Hirayama, Takashi;
Alonso, Jose M.

Publication type:

Article

Choroba Menkesa - opis przypadku.

Published in:

Modern Nursing & Health Care / Współczesne Pielęgniarstwo i Ochrona Zdrowia, 2021, v. 10, n. 1-4, p. 18

By:

Dzień, Izabela;
Rozensztrauch, Anna

Publication type:

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 Mimicking Child Abuse.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 3, p. e132, doi. 10.1111/pde.13106

By:

Droms, Rebecca J.;
Rork, Jillian F.;
McLean, Riley;
Martin, Madelena;
Belazarian, Leah;
Wiss, Karen

Publication type:

Article

Biometals in rare neurodegenerative disorders of childhood.

Published in:

Frontiers in Aging Neuroscience, 2013, p. 1, doi. 10.3389/fnagi.2013.00014

By:

Parker, Sarah Jan;
Koistinaho, Jari;
White, Anthony Robert;
Kanninen, Katja Marika

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

Academy News.

Published in:

Neonatal Network, 2025, v. 44, n. 2, p. 148, doi. 10.1891/NN.44.2.news

By:

Fraser, Debbie;
Joseph, Rachel;
Wagner, Sheron;
Hubbard, Sandra;
Abbu, Stephanie;
Rudd, Kathryn

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

Massive thrombosis in internal jugular phlebectasia in Menkes disease.

Published in:

2023

By:

Nakamura, Yuri;
Hitaka, Daisuke;
Kido, Takahiro;
Yaita, Katsuyuki;
Saeki, Saki;
Miyazono, Yayoi;
Takada, Hidetoshi

Publication type:

Case Study

ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.

Published in:

Pediatrics International, 2019, v. 61, n. 4, p. 345, doi. 10.1111/ped.13817

By:

Fujisawa, Chie;
Kodama, Hiroko;
Hiroki, Tomoko;
Akasaka, Yoshikiyo;
Hamanoue, Makoto

Publication type:

Article

Trichoscopy of an Isolated Trichorrhexis Nodosa: A Case Report.

Published in:

Indian Dermatology Online Journal, 2017, v. 8, n. 5, p. 386, doi. 10.4103/idoj.IDOJ_396_16

By:

Shah, Swapnil;
Ankad, Balachandra S.

Publication type:

Article

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

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

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

Medical Updates.

Published in:: Palaestra, 2009, v. 24, n. 4, p. 49
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

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

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

Published in:

Cancers, 2024, v. 16, n. 3, p. 647, doi. 10.3390/cancers16030647

By:

Springer, Chloe;
Humayun, Danish;
Skouta, Rachid

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