148 related articles for article (PubMed ID: 36815775)
1. Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Fan EM; Vagher J; Meznarich JA; Ubico EM; Goteti S; Peterson D; Rayes A; Maese LD
Am J Med Genet A; 2023 May; 191(5):1434-1441. PubMed ID: 36815775
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the
Bellanné-Chantelot C; Schmaltz-Panneau B; Marty C; Fenneteau O; Callebaut I; Clauin S; Docet A; Damaj GL; Leblanc T; Pellier I; Stoven C; Souquere S; Antony-Debré I; Beaupain B; Aladjidi N; Barlogis V; Bauduer F; Bensaid P; Boespflug-Tanguy O; Berger C; Bertrand Y; Carausu L; Fieschi C; Galambrun C; Schmidt A; Journel H; Mazingue F; Nelken B; Quah TC; Oksenhendler E; Ouachée M; Pasquet M; Saada V; Suarez F; Pierron G; Vainchenker W; Plo I; Donadieu J
Blood; 2018 Sep; 132(12):1318-1331. PubMed ID: 29914977
[TBL] [Abstract][Full Text] [Related]
3. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
[TBL] [Abstract][Full Text] [Related]
4. Case Report: Association between cyclic neutropenia and SRP54 deficiency.
Erdős M; Boyarchuk O; Maródi L
Front Immunol; 2022; 13():975017. PubMed ID: 36159802
[TBL] [Abstract][Full Text] [Related]
5. SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.
Schürch C; Schaefer T; Müller JS; Hanns P; Arnone M; Dumlin A; Schärer J; Sinning I; Wild K; Skokowa J; Welte K; Carapito R; Bahram S; Konantz M; Lengerke C
Blood; 2021 Mar; 137(10):1340-1352. PubMed ID: 33227812
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.
Juaire KD; Lapouge K; Becker MMM; Kotova I; Michelhans M; Carapito R; Wild K; Bahram S; Sinning I
Structure; 2021 Jan; 29(1):15-28.e7. PubMed ID: 33053321
[TBL] [Abstract][Full Text] [Related]
8. Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F; Cattoni A; D'Angio' M; Corti P; Maitz S; Pagni F; Seminati D; Pezzoli L; Iascone M; Biondi A; Bonanomi S
Br J Haematol; 2020 May; 189(4):e171-e174. PubMed ID: 32196641
[No Abstract] [Full Text] [Related]
9. 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]
10. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N; Oyarbide U; Cipolli M; Bezzerri V; Corey SJ
Haematologica; 2023 Oct; 108(10):2594-2605. PubMed ID: 37226705
[TBL] [Abstract][Full Text] [Related]
11. The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Arab F; Rezaei N; Taheri F; Kouhpeikar H; Rayzan E; Mirbeyk M; Zare-Abdollahi D; Ghadami M
Iran J Allergy Asthma Immunol; 2022 Jun; 21(3):344-354. PubMed ID: 35822684
[TBL] [Abstract][Full Text] [Related]
12. Mechanisms of leukemic transformation in congenital neutropenia.
Link DC
Curr Opin Hematol; 2019 Jan; 26(1):34-40. PubMed ID: 30431463
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Cellular Traffic Jam and Disease Due to Mutations in SRP54.
Weichenrieder O
Structure; 2021 Jan; 29(1):3-5. PubMed ID: 33417891
[TBL] [Abstract][Full Text] [Related]
15. Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Yeshareem L; Yacobovich J; Lebel A; Noy-Lotan S; Dgany O; Krasnov T; Berger Pinto G; Oniashvili N; Mardoukh J; Bielorai B; Laor R; Mandel-Shorer N; Ben Barak A; Levin C; Asleh M; Miskin H; Revel-Vilk S; Levin D; Benish M; Zuckerman T; Wolach O; Pazgal I; Brik Simon D; Gilad O; Yanir AD; Goldberg TA; Izraeli S; Tamary H; Steinberg-Shemer O
Eur J Haematol; 2024 Apr; ():. PubMed ID: 38600884
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Goldberg L; Simon AJ; Rechavi G; Lev A; Barel O; Kunik V; Toren A; Schiby G; Tamary H; Steinberg-Shemer O; Somech R
Pediatr Blood Cancer; 2020 Jun; 67(6):e28237. PubMed ID: 32277798
[TBL] [Abstract][Full Text] [Related]
18. CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia.
Tran NT; Graf R; Wulf-Goldenberg A; Stecklum M; Strauß G; Kühn R; Kocks C; Rajewsky K; Chu VT
Mol Ther; 2020 Dec; 28(12):2621-2634. PubMed ID: 32822592
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J; Bolyard AA; Rodger E; Stein S; Aprikyan AA; Dale DC; Link DC
Br J Haematol; 2009 Nov; 147(4):535-42. PubMed ID: 19775295
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J; Nacci L; Babini G; Cesaro S; Valli R; Ottolenghi A; Nicolis E; Pintani E; Maserati E; Cipolli M; Danesino C; Scotti C; Minelli A
Br J Haematol; 2019 May; 185(3):627-630. PubMed ID: 30198570
[No Abstract] [Full Text] [Related]
[Next] [New Search]