These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 32419428)

  • 1. A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
    Çipe FE; Aydoğmuş Ç; Baskın K; Keskindemirci G; Garncarz W; Boztuğ K
    Turk J Pediatr; 2020; 62(2):326-331. PubMed ID: 32419428
    [TBL] [Abstract][Full Text] [Related]  

  • 2. JAGN1 mutation with distinct clinical features; two case reports and literature review.
    Hojabri M; Farsi Y; Jamee M; Abolhassani H; Khani HHK; Karimi A; Mesdaghi M; Chavoshzadeh Z; Sharafian S
    BMC Pediatr; 2023 Apr; 23(1):206. PubMed ID: 37120535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
    Boztug K; Järvinen PM; Salzer E; Racek T; Mönch S; Garncarz W; Gertz EM; Schäffer AA; Antonopoulos A; Haslam SM; Schieck L; Puchałka J; Diestelhorst J; Appaswamy G; Lescoeur B; Giambruno R; Bigenzahn JW; Elling U; Pfeifer D; Conde CD; Albert MH; Welte K; Brandes G; Sherkat R; van der Werff Ten Bosch J; Rezaei N; Etzioni A; Bellanné-Chantelot C; Superti-Furga G; Penninger JM; Bennett KL; von Blume J; Dell A; Donadieu J; Klein C
    Nat Genet; 2014 Sep; 46(9):1021-7. PubMed ID: 25129144
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
    Cifaldi C; Serafinelli J; Petricone D; Brigida I; Di Cesare S; Di Matteo G; Chiriaco M; De Vito R; Palumbo G; Rossi P; Palma P; Cancrini C; Aiuti A; Finocchi A
    J Pediatr Hematol Oncol; 2019 May; 41(4):e266-e269. PubMed ID: 30044346
    [TBL] [Abstract][Full Text] [Related]  

  • 5. JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.
    Baris S; Karakoc-Aydiner E; Ozen A; Delil K; Kiykim A; Ogulur I; Baris I; Barlan IB
    J Clin Immunol; 2015 May; 35(4):339-43. PubMed ID: 25851723
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.
    Khandagale A; Holmlund T; Entesarian M; Nilsson D; Kalwak K; Klaudel-Dreszler M; Carlsson G; Henter JI; Nordenskjöld M; Fadeel B
    Br J Haematol; 2021 Jan; 192(1):200-211. PubMed ID: 33206996
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.
    Doll L; Welte K; Skokowa J; Bajoghli B
    Blood Adv; 2024 Aug; 8(15):4050-4065. PubMed ID: 38739706
    [TBL] [Abstract][Full Text] [Related]  

  • 8. JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia.
    Khandagale A; Lazzaretto B; Carlsson G; Sundin M; Shafeeq S; Römling U; Fadeel B
    J Leukoc Biol; 2018 Dec; 104(6):1199-1213. PubMed ID: 30106500
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Severe congenital neutropenia due to jagunal homolog 1 (
    Thomas S; Guenther G; Rowe JH; Platt CD; Shimamura A; Levy O; Ganapathi L
    Front Pediatr; 2023; 11():1223191. PubMed ID: 37528877
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. JAGN1 mutations in severe congenital neutropenia.
    McDermott DH; Malech HL
    Br J Haematol; 2021 Jan; 192(1):9-10. PubMed ID: 33207009
    [No Abstract]   [Full Text] [Related]  

  • 14. Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
    Parisi X; Bledsoe JR
    J Clin Pathol; 2024 Aug; 77(9):586-604. PubMed ID: 38589208
    [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 Aug; 113(2):146-162. PubMed ID: 38600884
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
    Aytekin C; Germeshausen M; Tuygun N; Dogu F; Ikinciogullari A
    J Pediatr Hematol Oncol; 2013 Mar; 35(2):e81-3. PubMed ID: 23018568
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting?
    VanWinkle PE; Parish F; Edwards YJK; Sztul E
    Am J Physiol Cell Physiol; 2020 Oct; 319(4):C667-C674. PubMed ID: 32783652
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF.
    Yilmaz Karapinar D; Özdemir HH; Akinci B; Yaşar AŞ; Siviş ZÖ; Onay H; Özkinay F
    J Pediatr Hematol Oncol; 2020 Apr; 42(3):e164-e166. PubMed ID: 30499904
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A syndrome with congenital neutropenia and mutations in G6PC3.
    Boztug K; Appaswamy G; Ashikov A; Schäffer AA; Salzer U; Diestelhorst J; Germeshausen M; Brandes G; Lee-Gossler J; Noyan F; Gatzke AK; Minkov M; Greil J; Kratz C; Petropoulou T; Pellier I; Bellanné-Chantelot C; Rezaei N; Mönkemöller K; Irani-Hakimeh N; Bakker H; Gerardy-Schahn R; Zeidler C; Grimbacher B; Welte K; Klein C
    N Engl J Med; 2009 Jan; 360(1):32-43. PubMed ID: 19118303
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.