Works matching Wiskott-Aldrich syndrome and genetics

Results: 26

Wiskott-Aldrich syndrome: case presentation with molecular genetic analysis for clonality.

Published in:

Acta Paediatrica, 1992, v. 81, n. 6/7, p. 558, doi. 10.1111/j.1651-2227.1992.tb12294.x

By:

Chlebcewicz-Szuba, W;
Lubiński, J;
Kamieńska, E;
Krygier-Stojalowska, A

Publication type:

Article

Prenatal diagnosis and genetic analysis of WiskottAldrich syndrome.

Published in:

Prenatal Diagnosis, 2003, v. 23, n. 12, p. 1014

By:

Katherine A. Siminovitch

Publication type:

Article

Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott–Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations.

Published in:

Journal of Clinical Immunology, 2010, v. 30, n. 4, p. 593, doi. 10.1007/s10875-010-9381-x

By:

Lee, Wen-I;
Huang, Jing-Long;
Jaing, Tang-Her;
Wu, Kang-Hsi;
Chien, Yin-Hsiu;
Chang, Kuei-Wen

Publication type:

Article

Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 23, doi. 10.1007/s004310050005

By:

Sasahara, Y.;
Kawai, S.;
Kumaki, S.;
Ohashi, Y.;
Minegishi, M.;
Tsuchiya, S.

Publication type:

Article

Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India.

Published in:

Asian Pacific Journal of Allergy & Immunology, 2012, v. 30, n. 1, p. 71

By:

Suri, Deepti;
Singh, Surjit;
Rawat, Amit;
Gupta, Anju;
Kamae, Chikako;
Honma, Kenichi;
Nakagawa, Noriko;
Imai, Kohsuke;
Nonoyama, Shigeaki;
Oshima, Koichi;
Mitsuiki, Noriko;
Ohara, Osamu;
Bilhou-Nabera, Chrystèle;
Proust, Alexis;
Ahluwalia, Jasmina;
Dogra, Sunil;
Saikia, Biman;
Minz, Ranjana Walker;
Sehgal, Shobha

Publication type:

Article

Application of Molecular Analysis to Genetic Counseling in the Wiskott-Aldrich Syndrome (WAS).

Published in:

DNA & Cell Biology, 1993, v. 12, n. 7, p. 645, doi. 10.1089/dna.1993.12.645

By:

NOTARANGELO, LUIGI D.;
CANDOTTI, FABIO;
PAROLINI, ORNELLA;
MANTUANO, ELIDE;
GILIANI, SILVIA;
LANFRANCHI, ARNALDA;
ALBERTINI, ALBERTO

Publication type:

Article

Evolutionary rescue by compensatory mutations is constrained by genomic and environmental backgrounds.

Published in:

Molecular Systems Biology, 2015, v. 11, n. 10, p. 1, doi. 10.15252/msb.20156444

By:

Filteau, Marie;
Hamel, Véronique;
Pouliot, Marie‐Christine;
Gagnon‐Arsenault, Isabelle;
Dubé, Alexandre K;
Landry, Christian R

Publication type:

Article

Stung by WASP.

Published in:

Nature Cell Biology, 2001, v. 3, n. 4, p. E95, doi. 10.1038/35070164

By:

Eggleston, Angela

Publication type:

Article

Confirmed diagnosis of classic Wiskott-Aldrich syndrome in East Africa: a case report.

Published in:

2022

By:

Kiputa, Mpokigwa;
Urio, Obrey;
Maghembe, Anna;
Kombo, David;
Dhalla, Sajda;
Ndembo, Victoria;
Muze, Kandi;
Kahwa, Mariam;
Fakih, Zameer;
Kija, Edward

Publication type:

Case Study

A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family.

Published in:

International Journal of Genomics, 2024, v. 2024, p. 1, doi. 10.1155/2024/2277956

By:

Wang, Lingyu;
Zhang, Jie;
Lu, Linna;
Ren, Juan;
Zhang, Yaofang;
Zhao, Lidong;
Shen, Wukang;
Hu, Xucheng;
Fang, Shuai;
Lu, Xiaomei;
Wang, Gang;
Yang, Linhua

Publication type:

Article

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15770

By:

Chuong, Ho Quoc;
Xinh, Phan Thi;
Tram, Duong Bich;
Ha, Nguyen Thi Thanh;
Nguyen, Tuan Minh;
Anh, Phan Nguyen Lien;
Van, Nguyen Dinh;
Anh, Nguyen Hoang Mai;
Dung, Phu Chi;
Nghia, Huynh;
Vu, Hoang Anh

Publication type:

Article

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.

Published in:

British Journal of Haematology, 2023, v. 200, n. 5, p. 595, doi. 10.1111/bjh.18497

By:

Moser, Laura M.;
Fekadu, Julia;
Willasch, André;
Rettinger, Eva;
Sörensen, Jan;
Jarisch, Andrea;
Kirwil, Marta;
Lieb, Adrian;
Holzinger, Dirk;
Calaminus, Gabriele;
Bader, Peter;
Bakhtiar, Shahrzad

Publication type:

Article

Wiskott–Aldrich syndrome: another piece in the puzzle.

Published in:

Clinical & Experimental Immunology, 2005, v. 139, n. 2, p. 173, doi. 10.1111/j.1365-2249.2005.02707.x

By:

Notarangelo, L. D.;
Mori, L.

Publication type:

Article

Recurrent V75M mutation within the Wiskott–Aldrich syndrome protein: description of a homozygous female patient.

Published in:

European Journal of Haematology, 2005, v. 75, n. 1, p. 54, doi. 10.1111/j.1600-0609.2005.00415.x

By:

Proust, Alexis;
Guillet, Benoît;
Pellier, Isabelle;
Rachieru, Petronela;
Hoarau, Cyrille;
Claeyssens, Ségolène;
Léonard, Claude;
Charrier, Sabine;
Vainchenker, William;
Tchernia, Gil;
Delaunay, Jean

Publication type:

Article

Wiskott-Aldrich syndrome: molecular pieces slide into place.

Published in:

2000

By:

Kuska, Bob;
Kuska, B

Publication type:

journal article

Síndrome de Wiskott-Aldrich. Comunicación de una nueva mutación.

Published in:

Revista Alergia de Mexico, 2014, v. 61, n. 3, p. 219, doi. 10.29262/ram.v61i3.45

By:

Guillén-Rocha, Nelva;
López-Rocha, Eunice;
Danielian, Silvia;
Segura-Méndez, Nora;
López-González, Lucina;
Lugo-Reyes, Saúl Oswaldo

Publication type:

Article

Clinical, Laboratory Features and Clinical Courses of Patients with Wiskott Aldrich Syndrome and X–linked Thrombocytopenia–A single center study.

Published in:

Immunological Investigations, 2022, v. 51, n. 5, p. 1272, doi. 10.1080/08820139.2021.1933516

By:

Bildik, Hacer Neslihan;
Cagdas, Deniz;
Ozturk Kura, Aysenur;
Oskay Halacli, Sevil;
Sanal, Ozden;
Tezcan, Ilhan

Publication type:

Article

Targeting WASF3 Signaling in Metastatic Cancer.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 836, doi. 10.3390/ijms22020836

By:

Loveless, Reid;
Teng, Yong

Publication type:

Article

Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.

Published in:

Life (2075-1729), 2024, v. 14, n. 10, p. 1329, doi. 10.3390/life14101329

By:

Galletta, Francesca;
Gambadauro, Antonella;
Foti Randazzese, Simone;
Passanisi, Stefano;
Sinatra, Vito;
Caminiti, Lucia;
Zirilli, Giuseppina;
Manti, Sara

Publication type:

Article

Rice TUTOU1 Encodes a Suppressor of cAMP Receptor-Like Protein That Is Important for Actin Organization and Panicle Development.

Published in:

Plant Physiology, 2015, v. 169, n. 2, p. 1179, doi. 10.1104/pp.15.00229

By:

Jiaoteng Bai;
Xudong Zhu;
Qing Wang;
Jian Zhang;
Hongqi Chen;
Guojun Dong;
Lei Zhu;
Huakun Zheng;
Qingjun Xie;
Jinqiang Nian;
Fan Chen;
Ying Fu;
Qian Qian;
Jianru Zuo

Publication type:

Article

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01848-w

By:

Gaikwad, Pallavi;
Bargir, Umair A.;
Jodhawat, Neha;
Dalvi, Aparna;
Shinde, Shweta;
Tamhankar, Parag;
Setia, Priyanka;
Kambli, Priyanka;
Dhawale, Amruta;
Temkar, Lavina;
Vedpathak, Disha;
Jose, Amrutha;
Gupta, Maya;
Yadav-Malik, Reetika;
Dutta, Shubhankar;
Bose, Kokoli;
Taur, Prasad;
Gowri, Vijaya;
Iyengar, Vaishnavi;
Chougule, Akshaya

Publication type:

Article

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0647-0

By:

Esmaeilzadeh, Hossein;
Bordbar, Mohammad Reza;
Dastsooz, Hassan;
Silawi, Mohammad;
Fard, Mohammad Ali Farazi;
Adib, Ali;
Kafashan, Ali;
Tabatabaei, Zahra;
Sadeghipour, Forough;
Faghihi, Mohammad Ali

Publication type:

Article

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1119

By:

Kolluri, Rikki;
Shehabeldin, Amro;
Peacocke, Monica;
Lamhonwah, Anne-Marie;
Teichert-Kuliszewska, Krystyna;
Weissman, Sherman M.;
Siminovitch, Katherine A.

Publication type:

Article

Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.

Published in:

Iranian Journal of Allergy, Asthma & Immunology, 2021, v. 20, n. 4, p. 402, doi. 10.18502/ijaai.v20i4.6950

By:

Shakerian, Leila;
Nourizadeh, Maryam;
Badalzadeh, Mohsen;
Fazlollahi, Mohammad Reza;
Shoormasti, Raheleh Shokouhi;
Saghafi, Shiva;
Esmaeili, Behnaz;
Alizadeh, Zahra;
Borte, Stephan;
Houshmand, Massoud;
Hammarström, Lennart;
Pourpak, Zahra

Publication type:

Article

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.

Published in:

British Journal of Haematology, 2009, v. 144, n. 1, p. 120, doi. 10.1111/j.1365-2141.2008.07416.x

By:

Beel, Karolien;
Cotter, Melanie M.;
Blatny, Jan;
Bond, Jonathan;
Lucas, Geoff;
Green, Frances;
Vanduppen, Vik;
Leung, Daisy W.;
Rooney, Sean;
Smith, Owen P.;
Rosen, Michael K.;
Vandenberghe, Peter

Publication type:

Article

Wbm0076, a candidate effector protein of the Wolbachia endosymbiont of Brugia malayi, disrupts eukaryotic actin dynamics.

Published in:

PLoS Pathogens, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.ppat.1010777

By:

Mills, Michael K.;
McCabe, Lindsey G.;
Rodrigue, Eugenie M.;
Lechtreck, Karl F.;
Starai, Vincent J.

Publication type:

Article