224 related articles for article (PubMed ID: 32327498)
1. A zebrafish model for HAX1-associated congenital neutropenia.
Doll L; Aghaallaei N; Dick AM; Welte K; Skokowa J; Bajoghli B
Haematologica; 2021 May; 106(5):1311-1320. PubMed ID: 32327498
[TBL] [Abstract][Full Text] [Related]
2. Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X; Zhang H; Dong L; Min Q; Yu M; Li Y; Liu L; Wang W; Ying W; Sun J; Wang JY; Hou J; Wang X
Blood Adv; 2024 Apr; 8(7):1667-1682. PubMed ID: 38286463
[TBL] [Abstract][Full Text] [Related]
3. HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
Karapınar TH; Yılmaz Karapinar D; Oymak Y; Ay Y; Demirağ B; Aykut A; Onay H; Hazan F; Aydınok Y; Özkınay F; Vergin C
Br J Haematol; 2017 May; 177(4):597-600. PubMed ID: 28169428
[TBL] [Abstract][Full Text] [Related]
4. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
Zeidler C; Germeshausen M; Klein C; Welte K
Br J Haematol; 2009 Feb; 144(4):459-67. PubMed ID: 19120359
[TBL] [Abstract][Full Text] [Related]
5. HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Pogozhykh D; Yilmaz Karapinar D; Klimiankou M; Gerschmann N; Ebetsberger-Dachs G; Palmblad J; Carlsson G; Masmas T; Kinsey S; Bartels M; Mellor-Heineke S; Welte K; Skokowa J; Zeidler C
Br J Haematol; 2023 Jul; 202(2):393-411. PubMed ID: 37193639
[TBL] [Abstract][Full Text] [Related]
6. Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF.
Yilmaz Karapinar D; Akinci B; Şahin Yaşar A; Hekimci Özdemir H; Önder Siviş Z; Onay H; Özkinay F
J Pediatr Hematol Oncol; 2019 Apr; 41(3):e190-e192. PubMed ID: 30028820
[TBL] [Abstract][Full Text] [Related]
7. Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Yılmaz Karapınar D; Patıroğlu T; Metin A; Çalışkan Ü; Celkan T; Yılmaz B; Karakaş Z; Karapınar TH; Akıncı B; Özkınay F; Onay H; Yeşilipek MA; Akar HH; Tüysüz G; Tokgöz H; Özdemir GN; Aslan Kıykım A; Karaman S; Kılınç Y; Oymak Y; Küpesiz A; Olcay L; Keskin Yıldırım Z; Aydoğan G; Gökçe M; İleri T; Aral YZ; Bay A; Atabay B; Kaya Z; Söker M; Özdemir Karadaş N; Özbek U; Özsait Selçuk B; Özdemir HH; Uygun V; Tezcan Karasu G; Yılmaz Ş
Pediatr Blood Cancer; 2019 Oct; 66(10):e27923. PubMed ID: 31321910
[TBL] [Abstract][Full Text] [Related]
8. Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis.
Skokowa J; Klimiankou M; Klimenkova O; Lan D; Gupta K; Hussein K; Carrizosa E; Kusnetsova I; Li Z; Sustmann C; Ganser A; Zeidler C; Kreipe HH; Burkhardt J; Grosschedl R; Welte K
Nat Med; 2012 Oct; 18(10):1550-9. PubMed ID: 23001182
[TBL] [Abstract][Full Text] [Related]
9. Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis.
Morishima T; Watanabe K; Niwa A; Hirai H; Saida S; Tanaka T; Kato I; Umeda K; Hiramatsu H; Saito MK; Matsubara K; Adachi S; Kobayashi M; Nakahata T; Heike T
Haematologica; 2014 Jan; 99(1):19-27. PubMed ID: 23975175
[TBL] [Abstract][Full Text] [Related]
10. Severe congenital neutropenias.
Skokowa J; Dale DC; Touw IP; Zeidler C; Welte K
Nat Rev Dis Primers; 2017 Jun; 3():17032. PubMed ID: 28593997
[TBL] [Abstract][Full Text] [Related]
11. Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G; Munzer M; Barthez MA; Beaufils S; Beaupain B; Flood T; Keren B; Bellanné-Chantelot C; Donadieu J
Pediatr Blood Cancer; 2014 Jun; 61(6):1041-8. PubMed ID: 24482108
[TBL] [Abstract][Full Text] [Related]
12. A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
Goktas S; Azizoglu ZB; Petersheim D; Erdogan M; Eke Gungor H; Bisgin A; Tuğ Bozdoğan S; Eken A; Unal E; Klein C; Patiroglu T
J Pediatr Hematol Oncol; 2022 Jan; 44(1):e62-e67. PubMed ID: 33560082
[TBL] [Abstract][Full Text] [Related]
13. [Molecular analysis of two cases of severe congenital neutropenia].
Park J; Kim M; Lim J; Kim Y; Cho B; Park YJ; Han K
Korean J Lab Med; 2010 Apr; 30(2):111-6. PubMed ID: 20445326
[TBL] [Abstract][Full Text] [Related]
14. Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1.
Skokowa J; Fobiwe JP; Dan L; Thakur BK; Welte K
Blood; 2009 Oct; 114(14):3044-51. PubMed ID: 19620402
[TBL] [Abstract][Full Text] [Related]
15. Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.
Patiroglu T; Gungor HE; Triot A; Unal E
Genet Couns; 2013; 24(3):253-8. PubMed ID: 24341138
[TBL] [Abstract][Full Text] [Related]
16. Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.
Mamishi S; Esfahani SA; Parvaneh N; Diestelhorst J; Rezaei N
J Investig Allergol Clin Immunol; 2009; 19(6):500-3. PubMed ID: 20128427
[TBL] [Abstract][Full Text] [Related]
17. Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A; Yacobovich J; Krasnov T; Koren A; Levin C; Kaplinsky C; Ravel-Vilk S; Laor R; Attias D; Ben Barak A; Shtager D; Stein J; Kuperman A; Miskin H; Dgany O; Giri N; Alter BP; Tamary H
Pediatr Blood Cancer; 2015 Jan; 62(1):103-8. PubMed ID: 25284454
[TBL] [Abstract][Full Text] [Related]
18. In vitro study of HAX1 gene therapy by retro viral transduction as a therapeutic target in severe congenital neutropenia.
Farajifard H; Zavvar M; Rajaei T; Noorbakhsh F; Nikougoftar-Zarif M; Azadmanesh K; Kompani F; Rezaei N
Eur Cytokine Netw; 2018 Nov; 29(4):146-152. PubMed ID: 30698159
[TBL] [Abstract][Full Text] [Related]
19. Dysregulation of myeloid-specific transcription factors in congenital neutropenia.
Skokowa J; Welte K
Ann N Y Acad Sci; 2009 Sep; 1176():94-100. PubMed ID: 19796237
[TBL] [Abstract][Full Text] [Related]
20. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C; Grudzien M; Appaswamy G; Germeshausen M; Sandrock I; Schäffer AA; Rathinam C; Boztug K; Schwinzer B; Rezaei N; Bohn G; Melin M; Carlsson G; Fadeel B; Dahl N; Palmblad J; Henter JI; Zeidler C; Grimbacher B; Welte K
Nat Genet; 2007 Jan; 39(1):86-92. PubMed ID: 17187068
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]