149 related articles for article (PubMed ID: 31673062)
21. Adenylate kinase 2 expression and addiction in T-ALL.
Maslah N; Latiri M; Asnafi V; Féroul M; Bedjaoui N; Steimlé T; Six E; Verhoyen E; Macintyre E; Lagresle-Peyrou C; Lhermitte L; Andrieu GP
Blood Adv; 2021 Feb; 5(3):700-710. PubMed ID: 33560378
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Reticular dysgenesis in a preterm infant: a case report.
Cosar H; Kahramaner Z; Erdemir A; Kanik A; Turkoglu E; Sutcuoglu S; Ozturk C; Atabay B; Arun Ozer E
Pediatr Hematol Oncol; 2010 Nov; 27(8):646-9. PubMed ID: 20863163
[TBL] [Abstract][Full Text] [Related]
24. AK2 deficiency: An awkward tale for B cells.
Campos Codo A; Moraes-Vieira PMM
J Allergy Clin Immunol; 2020 Jul; 146(1):74-76. PubMed ID: 32631498
[No Abstract] [Full Text] [Related]
25. Mechanism of mitochondrial import of adenylate kinase isozymes.
Nobumoto M; Yamada M; Song S; Inouye S; Nakazawa A
J Biochem; 1998 Jan; 123(1):128-35. PubMed ID: 9504419
[TBL] [Abstract][Full Text] [Related]
26. Adenylate kinase AK2 isoform integral in embryo and adult heart homeostasis.
Zhang S; Yamada S; Park S; Klepinin A; Kaambre T; Terzic A; Dzeja P
Biochem Biophys Res Commun; 2021 Mar; 546():59-64. PubMed ID: 33571905
[TBL] [Abstract][Full Text] [Related]
27. Adenylate kinase isozyme 2 is essential for growth and development of Drosophila melanogaster.
Fujisawa K; Murakami R; Horiguchi T; Noma T
Comp Biochem Physiol B Biochem Mol Biol; 2009 May; 153(1):29-38. PubMed ID: 19416704
[TBL] [Abstract][Full Text] [Related]
28. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.
Mehawej C; Chouery E; Azar-Atallah S; Shebaby W; Delague V; Mansour I; Mustapha M; Lefranc G; Megarbane A
Clin Immunol; 2023 Jun; 251():109326. PubMed ID: 37030525
[TBL] [Abstract][Full Text] [Related]
29. Gene structures of three vertebrate adenylate kinase isozymes.
Nakazawa A; Yamada M; Tanaka H; Shahjahan M; Tanabe T
Prog Clin Biol Res; 1990; 344():495-514. PubMed ID: 2168054
[TBL] [Abstract][Full Text] [Related]
30. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y; Shinde DN; Valencia CA; Mo JS; Rosenfeld J; Truitt Cho M; Chamberlin A; Li Z; Liu J; Gui B; Brockhage R; Basinger A; Alvarez-Leon B; Heydemann P; Magoulas PL; Lewis AM; Scaglia F; Gril S; Chong SC; Bower M; Monaghan KG; Willaert R; Plona MR; Dineen R; Milan F; Hoganson G; Powis Z; Helbig KL; Keller-Ramey J; Harris B; Anderson LC; Green T; Sukoff Rizzo SJ; Kaylor J; Chen J; Guan MX; Sellars E; Sparagana SP; Gibson JB; Reinholdt LG; Tang S; Huang T
Hum Mol Genet; 2017 Dec; 26(24):4937-4950. PubMed ID: 29040572
[TBL] [Abstract][Full Text] [Related]
31. A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder.
Salari F; Zaremehrjardi F; Arshi S; Bemanian MH; Fallahpour M; Shokri S; Seif F; Movahedi M; Nabavi M
Mol Biol Rep; 2019 Dec; 46(6):6571-6575. PubMed ID: 31520268
[TBL] [Abstract][Full Text] [Related]
32. Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Longo F; Benedetti S; Zambon AA; Sora MGN; Di Resta C; De Ritis D; Quattrini A; Maltecca F; Ferrari M; Previtali SC
Hum Mol Genet; 2020 Jan; 29(2):177-188. PubMed ID: 31868880
[TBL] [Abstract][Full Text] [Related]
33. Severe combined immunodeficiency resulting from mutations in MTHFD1.
Keller MD; Ganesh J; Heltzer M; Paessler M; Bergqvist AG; Baluarte HJ; Watkins D; Rosenblatt DS; Orange JS
Pediatrics; 2013 Feb; 131(2):e629-34. PubMed ID: 23296427
[TBL] [Abstract][Full Text] [Related]
34. Altered functional balance of Gfi-1 and Gfi-1b as an alternative cause of reticular dysgenesis?
Barjaktarevic I; Maletkovic-Barjaktarevic J; Kamani NR; Vukmanovic S
Med Hypotheses; 2010 Mar; 74(3):445-8. PubMed ID: 19896777
[TBL] [Abstract][Full Text] [Related]
35. Adenylate kinase 1 deficiency induces molecular and structural adaptations to support muscle energy metabolism.
Janssen E; de Groof A; Wijers M; Fransen J; Dzeja PP; Terzic A; Wieringa B
J Biol Chem; 2003 Apr; 278(15):12937-45. PubMed ID: 12562761
[TBL] [Abstract][Full Text] [Related]
36. A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
Liao CY; Yu HW; Cheng CN; Chen JS; Lin CW; Chen PC; Shieh CC
J Microbiol Immunol Infect; 2020 Feb; 53(1):99-105. PubMed ID: 29551298
[TBL] [Abstract][Full Text] [Related]
37. Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Barbosa-Gouveia S; Vázquez-Mosquera ME; Gonzalez-Vioque E; Hermida-Ameijeiras Á; Valverde LL; Armstrong-Moron J; Fons-Estupiña MDC; Wintjes LT; Kappen A; Rodenburg RJ; Couce ML
Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948281
[TBL] [Abstract][Full Text] [Related]
38. Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M; Lagresle-Peyrou C; Pannicke U; Notarangelo LD; Porta F; Gennery AR; Slatter M; Cowan MJ; Stepensky P; Al-Mousa H; Al-Zahrani D; Pai SY; Al Herz W; Gaspar HB; Veys P; Oshima K; Imai K; Yabe H; Noroski LM; Wulffraat NM; Sykora KW; Soler-Palacin P; Muramatsu H; Al Hilali M; Moshous D; Debatin KM; Schuetz C; Jacobsen EM; Schulz AS; Schwarz K; Fischer A; Friedrich W; Cavazzana M;
Blood; 2017 May; 129(21):2928-2938. PubMed ID: 28331055
[TBL] [Abstract][Full Text] [Related]
39. Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J; Desai M; Gupta M; Dalvi A; Terance A; Rosenzweig SD; Stoddard JL; Niemela JE; Tamankar V; Mhatre S; Bargir U; Kulkarni M; Shah N; Aggarwal A; Lashkari HP; Krishna V; Govindaraj G; Kalra M; Madkaikar M
Front Immunol; 2019; 10():23. PubMed ID: 30778343
[TBL] [Abstract][Full Text] [Related]
40. Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Ruzzenente B; Assouline Z; Barcia G; Rio M; Boddaert N; Munnich A; Rötig A; Metodiev MD
Hum Mutat; 2018 Dec; 39(12):2047-2059. PubMed ID: 30252186
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
