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101 results for Hypotrichosis+-+genetics

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ArticlesPeer ReviewedFull Text
Sox18 induces development of the lymphatic vasculature in mice
Author / Creator:François, Mathias ; Caprini, Andrea ; Hosking, Brett ; Orsenigo, Fabrizio ; Wilhelm, Dagmar ; Browne, Catherine ; Paavonen, Karri ; Karnezis, Tara ; Shayan, Ramin ; Downes, Meredith ; Davidson, Tara ; Tutt, Desmond ; Cheah, Kathryn S. E. ; Stacker, Steven A. ; Muscat, George E. O. ; Achen, Marc G. ; Dejana, Elisabetta ; Koopman, Peter
Publisher:London: Nature Publishing Group UK
Journal title:Nature, 2008-12, Vol.456 (7222), p.643-647
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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
Author / Creator:Malki, Liron ; Sarig, Ofer ; Cesarato, Nicole ; Mohamad, Janan ; Canter, Talia ; Assaf, Sari ; Pavlovsky, Mor ; Vodo, Dan ; Anis, Yossi ; Bihari, Ofer ; Malovitski, Kiril ; Gat, Andrea ; Thiele, Holger ; White, Bethany E. Perez ; Samuelov, Liat ; Nanda, Arti ; Paller, Amy S. ; Betz, Regina C. ; Sprecher, Eli
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-07, Vol.22 (7), p.1227-1234
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APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Author / Creator:Shimomura, Yutaka ; Agalliu, Dritan ; Vonica, Alin ; Luria, Victor ; Wajid, Muhammad ; Baumer, Alessandra ; Belli, Serena ; Petukhova, Lynn ; Schinzel, Albert ; Brivanlou, Ali H. ; Barres, Ben A. ; Christiano, Angela M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2010-04, Vol.464 (7291), p.1043-1047
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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Author / Creator:Wen, Yaran ; Liu, Yang ; Xu, Yiming ; Zhao, Yiwei ; Hua, Rui ; Wang, Kaibo ; Sun, Miao ; Li, Yuanhong ; Yang, Sen ; Zhang, Xue-Jun ; Kruse, Roland ; Cichon, Sven ; Betz, Regina C ; Nöthen, Markus M ; van Steensel, Maurice A M ; van Geel, Michel ; Steijlen, Peter M ; Hohl, Daniel ; Huber, Marcel ; Dunnill, Giles S ; Kennedy, Cameron ; Messenger, Andrew ; Munro, Colin S ; Terrinoni, Alessandro ; Hovnanian, Alain ; Bodemer, Christine ; de Prost, Yves ; Paller, Amy S ; Irvine, Alan D ; Sinclair, Rod ; Green, Jack ; Shang, Dandan ; Liu, Qing ; Luo, Yang ; Jiang, Li ; Chen, Hong-Duo ; Lo, Wilson H-Y ; McLean, W H Irwin ; He, Chun-Di ; Zhang, Xue
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-02, Vol.41 (2), p.228-233
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Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis
Author / Creator:Taghavi-Basmenj, Maryam ; Razipour, Masoumeh ; Davoudi-Dehaghani, Elham ; Nasimi, Maryam ; Abghari, Fateme Zahedi ; Karimipoor, Morteza
Publisher:United States: University of California Digital Library - eScholarship
Journal title:Dermatology online journal, 2019-03, Vol.25 (3)
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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
Author / Creator:Gomes, Maria Eduarda ; Kehdy, Fernanda ; de Neves-Manta, Fernanda Saloum ; Horovitz, Dafne Dain Gandelman ; Sanseverino, Maria Teresa ; Leal, Gabriela Ferraz ; Felix, Têmis Maria ; Cavalcanti, Denise Pontes ; Llerena, Juan Clinton ; Gonzalez, Sayonara
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-06, Vol.14 (1), p.13436-7, Article 13436
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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Author / Creator:Wada, Yoichi ; Kikuchi, Atsuo ; Kaga, Akimune ; Shimizu, Naoki ; Ito, Junya ; Onuma, Ryo ; Fujishima, Fumiyoshi ; Totsune, Eriko ; Sato, Ryo ; Niihori, Tetsuya ; Shirota, Matsuyuki ; Funayama, Ryo ; Sato, Kota ; Nakazawa, Toru ; Nakayama, Keiko ; Aoki, Yoko ; Aiba, Setsuya ; Nakagawa, Kiyotaka ; Kure, Shigeo
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-02, Vol.16 (2), p.e1008628-e1008628
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Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
Author / Creator:Vakkilainen, Svetlana ; Ahonen, Kira ; Mäkitie, Outi
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2024-07, Vol.44 (5), p.115, Article 115
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Author / Creator:Bal, Elodie ; Park, Hyun-Sook ; Belaid-Choucair, Zakia ; Kayserili, Hülya ; Naville, Magali ; Madrange, Marine ; Chiticariu, Elena ; Hadj-Rabia, Smail ; Cagnard, Nicolas ; Kuonen, Francois ; Bachmann, Daniel ; Huber, Marcel ; Le Gall, Cindy ; Côté, Francine ; Hanein, Sylvain ; Rosti, Rasim Özgür ; Aslanger, Ayca Dilruba ; Waisfisz, Quinten ; Bodemer, Christine ; Hermine, Olivier ; Morice-Picard, Fanny ; Labeille, Bruno ; Caux, Frédéric ; Mazereeuw-Hautier, Juliette ; Philip, Nicole ; Levy, Nicolas ; Taieb, Alain ; Avril, Marie-Françoise ; Headon, Denis J ; Gyapay, Gabor ; Magnaldo, Thierry ; Fraitag, Sylvie ; Crollius, Hugues Roest ; Vabres, Pierre ; Hohl, Daniel ; Munnich, Arnold ; Smahi, Asma
Publisher:New York: Nature Publishing Group US
Journal title:Nature Medicine, 2017-10, Vol.23 (10), p.1226-1233
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G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
Author / Creator:Pasternack, Sandra M ; von Kügelgen, Ivar ; Aboud, Khalid Al ; Lee, Young-Ae ; Rüschendorf, Franz ; Voss, Katrin ; Hillmer, Axel M ; Molderings, Gerhard J ; Franz, Thomas ; Ramirez, Alfredo ; Nürnberg, Peter ; Nöthen, Markus M ; Betz, Regina C
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-03, Vol.40 (3), p.329-334
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BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex—a tumour suppressor or tumour-promoting factor?
Author / Creator:Jancewicz, Iga ; Siedlecki, Janusz A. ; Sarnowski, Tomasz J. ; Sarnowska, Elzbieta
Publisher:England: BioMed Central Ltd
Journal title:Epigenetics & chromatin, 2019-11, Vol.12 (1), p.68-68, Article 68
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
Author / Creator:Bramswig, Nuria C. ; Lüdecke, Hermann-Josef ; Alanay, Yasemin ; Albrecht, Beate ; Barthelmie, Alexander ; Boduroglu, Koray ; Braunholz, Diana ; Caliebe, Almuth ; Chrzanowska, Krystyna H. ; Czeschik, Johanna Christina ; Endele, Sabine ; Graf, Elisabeth ; Guillén-Navarro, Encarna ; Kiper, Pelin Özlem Simsek ; López-González, Vanesa ; Parenti, Ilaria ; Pozojevic, Jelena ; Utine, Gulen Eda ; Wieland, Thomas ; Kaiser, Frank J. ; Wollnik, Bernd ; Strom, Tim M. ; Wieczorek, Dagmar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2015-06, Vol.134 (6), p.553-568
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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Author / Creator:Al-Kindi, Adila ; Al-Shehhi, Maryam ; Westenberger, Ana ; Beetz, Christian ; Scott, Patrick ; Brandau, Oliver ; Abbasi-Moheb, Lia ; Yüksel, Zafer ; Bauer, Peter ; Rolfs, Arndt ; Grüning, Nana-Maria
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-01, Vol.65 (2), p.193-197
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Author / Creator:Chater-Diehl, Eric ; Ejaz, Resham ; Cytrynbaum, Cheryl ; Siu, Michelle T. ; Turinsky, Andrei ; Choufani, Sanaa ; Goodman, Sarah J. ; Abdul-Rahman, Omar ; Bedford, Melanie ; Dorrani, Naghmeh ; Engleman, Kendra ; Flores-Daboub, Josue ; Genevieve, David ; Mendoza-Londono, Roberto ; Meschino, Wendy ; Perrin, Laurence ; Safina, Nicole ; Townshend, Sharron ; Scherer, Stephen W. ; Anagnostou, Evdokia ; Piton, Amelie ; Deardorff, Matthew ; Brudno, Michael ; Chitayat, David ; Weksberg, Rosanna
Publisher:England: BioMed Central
Journal title:BMC medical genomics, 2019-07, Vol.12 (1), p.105-105, Article 105
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Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
Author / Creator:Li, Guoqiang ; Chang, Guoying ; Wang, Chen ; Yu, Tingting ; Li, Niu ; Huang, Xiaodong ; Wang, Xiumin ; Wang, Jian ; Wang, Jiwen ; Yao, Ruen
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2021-08, Vol.14 (1), p.207-5, Article 207
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A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
Author / Creator:Fujimoto, Atsushi ; Farooq, Muhammad ; Fujikawa, Hiroki ; Inoue, Asuka ; Ohyama, Manabu ; Ehama, Ritsuko ; Nakanishi, Jotaro ; Hagihara, Motofumi ; Iwabuchi, Tokuro ; Aoki, Junken ; Ito, Masaaki ; Shimomura, Yutaka
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2012-10, Vol.132 (10), p.2342-2349
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Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2
Author / Creator:Schlaweck, Annika E. ; Tazi-Ahnini, Rachid ; Ü. Basmanav, F. Buket ; Mohungoo, Javed ; Pasternack-Ziach, Sandra M. ; Mattheisen, Manuel ; Oprisoreanu, Ana-Maria ; Humbatova, Aytaj ; Wolf, Sabrina ; Messenger, Andrew ; Betz, Regina C.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-12, Vol.14 (12), p.e0225943-e0225943
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Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis
Author / Creator:Shimomura, Yutaka ; Wajid, Muhammad ; Petukhova, Lynn ; Shapiro, Lawrence ; Christiano, Angela M.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2009-03, Vol.129 (3), p.622-628
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The stem cell quiescence and niche signaling is disturbed in the hair follicle of the hairpoor mouse, an MUHH model mouse
Author / Creator:Choi, Keonwoo ; Park, Sang-Hee ; Park, Seo-Yeon ; Yoon, Sungjoo Kim
Publisher:England: BioMed Central Ltd
Journal title:Stem cell research & therapy, 2022-05, Vol.13 (1), p.211-211, Article 211
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Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
Author / Creator:Kazantseva, Anastasiya ; Goltsov, Andrey ; Zinchenko, Rena ; Grigorenko, Anastasia P ; Abrukova, Anna V ; Moliaka, Yuri K ; Kirillov, Alexander G ; Guo, Zhiru ; Lyle, Stephen ; Ginter, Evgeny K ; Rogaev, Evgeny I
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2006-11, Vol.314 (5801), p.982-985
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Sox18 induces development of the lymphatic vasculature in mice

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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

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APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

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Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

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Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

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G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

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BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex—a tumour suppressor or tumour-promoting factor?

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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

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Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

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A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

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Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

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Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis

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The stem cell quiescence and niche signaling is disturbed in the hair follicle of the hairpoor mouse, an MUHH model mouse

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Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

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