BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 33227812)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.
    Patil P; Uechi T; Kenmochi N
    RNA Biol; 2015; 12(4):426-34. PubMed ID: 25849198
    [TBL] [Abstract][Full Text] [Related]  

  • 10. SRP54 and a need for a new neutropenia nosology.
    Oyarbide U; Corey SJ
    Blood; 2018 Sep; 132(12):1220-1222. PubMed ID: 30237254
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A pediatric case of congenital neutropenia with SRP54 gene mutation in which monocytosis and gingival swelling were useful in differentiating from autoimmune neutropenia.
    Manabe T; Taku K; Hoshina T; Higuchi N; Karakawa S; Kusuhara K
    Pediatr Blood Cancer; 2022 Sep; 69(9):e29648. PubMed ID: 35253356
    [No Abstract]   [Full Text] [Related]  

  • 12. Heterozygous variants of CLPB are a cause of severe congenital neutropenia.
    Warren JT; Cupo RR; Wattanasirakul P; Spencer DH; Locke AE; Makaryan V; Bolyard AA; Kelley ML; Kingston NL; Shorter J; Bellanné-Chantelot C; Donadieu J; Dale DC; Link DC
    Blood; 2022 Feb; 139(5):779-791. PubMed ID: 34115842
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
    Van Nieuwenhove E; Barber JS; Neumann J; Smeets E; Willemsen M; Pasciuto E; Prezzemolo T; Lagou V; Seldeslachts L; Malengier-Devlies B; Metzemaekers M; Haßdenteufel S; Kerstens A; van der Kant R; Rousseau F; Schymkowitz J; Di Marino D; Lang S; Zimmermann R; Schlenner S; Munck S; Proost P; Matthys P; Devalck C; Boeckx N; Claessens F; Wouters C; Humblet-Baron S; Meyts I; Liston A
    J Allergy Clin Immunol; 2020 Nov; 146(5):1180-1193. PubMed ID: 32325141
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cooperating, congenital neutropenia-associated Csf3r and Runx1 mutations activate pro-inflammatory signaling and inhibit myeloid differentiation of mouse HSPCs.
    Ritter M; Klimiankou M; Klimenkova O; Schambach A; Hoffmann D; Schmidt A; Kanz L; Link DC; Welte K; Skokowa J
    Ann Hematol; 2020 Oct; 99(10):2329-2338. PubMed ID: 32821971
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution.
    Carden MA; Connelly JA; Weinzierl EP; Kobrynski LJ; Chandrakasan S
    J Clin Immunol; 2018 Jul; 38(5):546-549. PubMed ID: 29956078
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. Screening of genetic variants in
    Arunachalam AK; Suresh H; Edison ES; Korula A; Aboobacker FN; George B; Shaji RV; Mathews V; Balasubramanian P
    J Clin Pathol; 2020 Jun; 73(6):322-327. PubMed ID: 31732620
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ultra-Sensitive
    Klimiankou M; Uenalan M; Kandabarau S; Nustede R; Steiert I; Mellor-Heineke S; Zeidler C; Skokowa J; Welte K
    Front Immunol; 2019; 10():116. PubMed ID: 30891028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CRISPR/Cas9-mediated
    Nasri M; Ritter M; Mir P; Dannenmann B; Aghaallaei N; Amend D; Makaryan V; Xu Y; Fletcher B; Bernhard R; Steiert I; Hahnel K; Berger J; Koch I; Sailer B; Hipp K; Zeidler C; Klimiankou M; Bajoghli B; Dale DC; Welte K; Skokowa J
    Haematologica; 2020 Mar; 105(3):598-609. PubMed ID: 31248972
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.