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Quoted phrase not found in phrase index: "X-linked congenital hemolytic anemia"
Page 1
Alpha-thalassaemia.
Bernini LF, Harteveld CL. Bernini LF, et al. Baillieres Clin Haematol. 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. Baillieres Clin Haematol. 1998. PMID: 10872473 Review.
Particularly interesting are the deletions which eliminate large DNA areas 5' of zeta or of both alpha genes. These deletions do not include the structural genes but, nevertheless, suppress completely their expression. ...The study of mutations of the 5' upstream fl …
Particularly interesting are the deletions which eliminate large DNA areas 5' of zeta or of both alpha genes. These deletions do not …
Alpha thalassaemia-mental retardation, X linked.
Gibbons R. Gibbons R. Orphanet J Rare Dis. 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. Orphanet J Rare Dis. 2006. PMID: 16722615 Free PMC article. Review.
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. ...Alpha-thalassaemia is not always present. This syndrome is X-link …
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, faci …
Glucose-6-phosphate dehydrogenase deficiency and long-term risk of immune-related disorders.
Israel A, Schäffer AA, Berkovitch M, Ozeri DJ, Merzon E, Green I, Golan-Cohen A, Ruppin E, Vinker S, Magen E. Israel A, et al. Front Immunol. 2023 Sep 11;14:1232560. doi: 10.3389/fimmu.2023.1232560. eCollection 2023. Front Immunol. 2023. PMID: 37753082 Free PMC article.
INTRODUCTION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymatic disorder that is particularly prevalent in Africa, Asia, and the Middle East. ...Specifically, notable increases were observed for rheumatoid arthritis (odds ratio [OR] …
INTRODUCTION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymatic disorder that is particularly preva …
Colorectal cancer patient-derived organoids and cell lines harboring ATRX and/or DAXX mutations lack Alternative Lengthening of Telomeres (ALT).
Falcinelli M, Dell'Omo G, Grassi E, Mariella E, Leto SM, Scardellato S, Lorenzato A, Arena S, Bertotti A, Trusolino L, Bardelli A, d'Adda di Fagagna F. Falcinelli M, et al. Cell Death Dis. 2023 Feb 9;14(2):96. doi: 10.1038/s41419-023-05640-3. Cell Death Dis. 2023. PMID: 36759506 Free PMC article.
ALT is genetically associated with somatic alterations in alpha-thalassemia/mental retardation X-linked (ATRX) and death domain-associated protein (DAXX) genes. ...Overall, our extensive analyses indicate that CRC is not prone to engage ALT, even when carryin …
ALT is genetically associated with somatic alterations in alpha-thalassemia/mental retardation X-linked (ATRX) and death domai …
Incorporating G6PD genotyping to identify patients with G6PD deficiency.
Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE. Morris SA, et al. Pharmacogenet Genomics. 2022 Apr 1;32(3):87-93. doi: 10.1097/FPC.0000000000000456. Pharmacogenet Genomics. 2022. PMID: 34693927 Free PMC article.
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common X-linked enzyme disorder associated with hemolytic anemia after exposure to fava beans or certain medications. ...Of 1391 patients with genotype results, 1334 (95.9%) patients were pred …
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common X-linked enzyme disorder associated with hemolytic a …
ATRX modulates the escape from a telomere crisis.
Geiller HEB, Harvey A, Jones RE, Grimstead JW, Cleal K, Hendrickson EA, Baird DM. Geiller HEB, et al. PLoS Genet. 2022 Nov 9;18(11):e1010485. doi: 10.1371/journal.pgen.1010485. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36350851 Free PMC article.
Loss-of-function mutations in the Alpha Thalassemia/Mental Retardation Syndrome X-Linked (ATRX) gene are frequently found in ALT cancers. Here, we demonstrate that the loss of ATRX, coupled with telomere dysfunction during crisis, is sufficient to initiate activatio …
Loss-of-function mutations in the Alpha Thalassemia/Mental Retardation Syndrome X-Linked (ATRX) gene are frequently found in A …
ATRX protein is a potential prognostic marker in clear cell renal cell carcinoma.
Baek J, Jang NR, Shim YR, Gu MJ. Baek J, et al. Indian J Pathol Microbiol. 2022 Jul-Sep;65(3):598-603. doi: 10.4103/ijpm.ijpm_1256_21. Indian J Pathol Microbiol. 2022. PMID: 35900487 Free article.
OBJECTIVE: Cancer cells activate either telomerase or alternative lengthening of telomeres (ALT) to maintain telomere length and achieve immortalization. Alpha thalassemia/mental retardation X-linked (ATRX) is involved in chromatin remodeling. Mutations in ATRX g …
OBJECTIVE: Cancer cells activate either telomerase or alternative lengthening of telomeres (ALT) to maintain telomere length and achieve imm …
Epidemiological shift of glucose-6-phosphate dehydrogenase mutations in northern Italy in the last 15 years.
Duca L, Nava I, Tavazzi D, Marcon A, Motta I, Graziadei G. Duca L, et al. Ann Hematol. 2021 Nov;100(11):2683-2688. doi: 10.1007/s00277-021-04630-9. Epub 2021 Sep 17. Ann Hematol. 2021. PMID: 34533603
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutations in G6PD gene. ...During 15 years a significant decrease of the Mediterranean and an important increase of the African, Asian, and uncommon …
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutation …
Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study.
Bhattacharyya U, Deswal P, Polipalli SK, Sharma D, Kaur M; Serb-Nbs Initiative Group; Kapoor S, Thelma BK. Bhattacharyya U, et al. J Genet. 2023;102:40. J Genet. 2023. PMID: 37674284 Free article.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked disorder with well-established clinical and allelic heterogeneity and ethnic disparity. With ~390,000 annual births with G6PD deficiency in India, it emerges as the most predictable and …
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked disorder with well-established clinical and allelic h …
Evaluation of a flow cytometric test for G6PD-deficient erythrocytes.
Kapadia AB, Sharma P, Jain K, Sachdeva MUS, Bose PL, Gupta M, Khadwal AR, Bal A, Das R, Varma N. Kapadia AB, et al. Trop Med Int Health. 2021 Apr;26(4):462-468. doi: 10.1111/tmi.13547. Epub 2021 Feb 2. Trop Med Int Health. 2021. PMID: 33415798 Free article.
OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked recessive disorder, is the commonest erythrocytic enzymopathy worldwide. Reliable diagnosis and severity prediction in G6PD-deficient/heterozygous females remain challenging. ...
OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked recessive disorder, is the commonest erythrocytic …
71 results