145 related articles for article (PubMed ID: 32532877)
1. Reticular dysgenesis caused by an intronic pathogenic variant in
Ichikawa S; Prockop S; Cunningham-Rundles C; Sifers T; Conner BR; Wu S; Karam R; Walsh MF; Fiala E
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532877
[TBL] [Abstract][Full Text] [Related]
2. Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
Hoenig M; Pannicke U; Gaspar HB; Schwarz K
Br J Haematol; 2018 Mar; 180(5):644-653. PubMed ID: 29270983
[TBL] [Abstract][Full Text] [Related]
3. Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis.
Al-Zahrani D; Al-Ghonaium A; Al-Mousa H; Al-Kassar A; Roifman CM
J Allergy Clin Immunol; 2013 Oct; 132(4):993-6. PubMed ID: 23763981
[No Abstract] [Full Text] [Related]
4. Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis.
Guilcher GM; Wright NA; Truong TH; Daly A; Lewis VA
J Clin Immunol; 2017 Jan; 37(1):29-31. PubMed ID: 27913909
[No Abstract] [Full Text] [Related]
5. Reticular dysgenesis exacerbated by hemophagocytic lymphohistiocytosis and the presence of unusual histiocyte-like cells in bone marrow.
Sharma M; Tyagi R; Loganathan SK; Sreedharaunni S; Rawat A; Gupta A
Immunobiology; 2021 Nov; 226(6):152143. PubMed ID: 34598034
[TBL] [Abstract][Full Text] [Related]
6. Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
Ghaloul-Gonzalez L; Mohsen AW; Karunanidhi A; Seminotti B; Chong H; Madan-Khetarpal S; Sebastian J; Vockley CW; Reyes-Múgica M; Vander Lugt MT; Vockley J
Sci Rep; 2019 Oct; 9(1):15739. PubMed ID: 31673062
[TBL] [Abstract][Full Text] [Related]
7. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
Pannicke U; Hönig M; Hess I; Friesen C; Holzmann K; Rump EM; Barth TF; Rojewski MT; Schulz A; Boehm T; Friedrich W; Schwarz K
Nat Genet; 2009 Jan; 41(1):101-5. PubMed ID: 19043417
[TBL] [Abstract][Full Text] [Related]
8. AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages.
Six E; Lagresle-Peyrou C; Susini S; De Chappedelaine C; Sigrist N; Sadek H; Chouteau M; Cagnard N; Fontenay M; Hermine O; Chomienne C; Reynier P; Fischer A; André-Schmutz I; Gueguen N; Cavazzana M
Cell Death Dis; 2015 Aug; 6(8):e1856. PubMed ID: 26270350
[TBL] [Abstract][Full Text] [Related]
9. A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress.
Rissone A; Jimenez E; Bishop K; Carrington B; Slevin C; Wincovitch SM; Sood R; Candotti F; Burgess SM
Dis Model Mech; 2019 Dec; 12(12):. PubMed ID: 31727854
[TBL] [Abstract][Full Text] [Related]
10. Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.
Small TN; Wall DA; Kurtzberg J; Cowan MJ; O'Reilly RJ; Friedrich W
J Pediatr; 1999 Sep; 135(3):387-9. PubMed ID: 10484810
[TBL] [Abstract][Full Text] [Related]
11. MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA; Soukarieh O; Rolain M; Alvarez K; López-Köstner F; Torrezan GT; Carraro DM; De Oliveira Nascimento IL; Bomfim TF; Machado-Lopes TMB; Freitas JC; Toralles MB; Sandes KA; Rossi BM; Junior SA; Meira J; Dominguez-Valentin M; Møller P; Vaccaro CA; Martins A; Pavicic WH
Fam Cancer; 2020 Oct; 19(4):323-336. PubMed ID: 32363481
[TBL] [Abstract][Full Text] [Related]
12. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
Chou J; Alazami AM; Jaber F; Hoyos-Bachiloglu R; Jones J; Weeks S; Alosaimi MF; Bainter W; Cangemi B; Badran YR; Mohammed R; Alroqi F; Almutairi A; Al-Onazi N; AlAjaji S; Al-Saud B; Arnaout R; Elkins M; Devana S; Imperial J; Li B; Drexhage L; Abdel Rahman AM; Jacob M; Haddad H; Hanna-Wakim R; Dbaibo G; Massaad MJ; Dasouki M; Mikhael R; Baz Z; Geha RS; Al-Mousa H
J Allergy Clin Immunol; 2020 Jul; 146(1):192-202. PubMed ID: 31862378
[TBL] [Abstract][Full Text] [Related]
13. First reported case of Omenn syndrome in a patient with reticular dysgenesis.
Henderson LA; Frugoni F; Hopkins G; Al-Herz W; Weinacht K; Comeau AM; Bonilla FA; Notarangelo LD; Pai SY
J Allergy Clin Immunol; 2013 Apr; 131(4):1227-30, 1230.e1-3. PubMed ID: 23014587
[No Abstract] [Full Text] [Related]
14. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT; Branch J; Wu S; Yuan Z; Li Y; Li H; Wang K; Xu M; Rajan L; Motta FL; Simões RT; Lopez-Solache I; Ajlan R; Birch DG; Zhao P; Porto FB; Sallum J; Koenekoop RK; Sui R; Chen R
Hum Mutat; 2017 Nov; 38(11):1521-1533. PubMed ID: 28714225
[TBL] [Abstract][Full Text] [Related]
15. From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.
Taghizadeh N; Mohammadi S; Abolhassani H; Shokri S; Nabavi M; Fallahpour M; Bemanian MH
BMC Pediatr; 2024 Feb; 24(1):116. PubMed ID: 38350907
[TBL] [Abstract][Full Text] [Related]
16. Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M; Cornelis SS; Khan MI; Elmelik D; Manders E; Bakker S; Derks R; Neveling K; van de Vorst M; Gilissen C; Meunier I; Defoort S; Puech B; Devos A; Schulz HL; Stöhr H; Grassmann F; Weber BHF; Dhaenens CM; Cremers FPM
Hum Mutat; 2019 Oct; 40(10):1749-1759. PubMed ID: 31212395
[TBL] [Abstract][Full Text] [Related]
17. Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors.
Oshima K; Saiki N; Tanaka M; Imamura H; Niwa A; Tanimura A; Nagahashi A; Hirayama A; Okita K; Hotta A; Kitayama S; Osawa M; Kaneko S; Watanabe A; Asaka I; Fujibuchi W; Imai K; Yabe H; Kamachi Y; Hara J; Kojima S; Tomita M; Soga T; Noma T; Nonoyama S; Nakahata T; Saito MK
Biochem Biophys Res Commun; 2018 Mar; 497(2):719-725. PubMed ID: 29462620
[TBL] [Abstract][Full Text] [Related]
18. Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
Dragoš VŠ; Strojnik K; Klančar G; Škerl P; Stegel V; Blatnik A; Banjac M; Krajc M; Novaković S
Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806449
[TBL] [Abstract][Full Text] [Related]
19. The scary world of variants of uncertain significance (VUS): A hitchhiker's guide to interpretation.
Sullivan KE
J Allergy Clin Immunol; 2021 Feb; 147(2):492-494. PubMed ID: 32598897
[No Abstract] [Full Text] [Related]
20. Early-onset Wilson disease caused by
Koboldt DC; Hickey SE; Chaudhari BP; Mihalic Mosher T; Bedrosian T; Crist E; Kaler SG; McBride K; White P; Wilson RK
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532881
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
