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The following term was not found in PubMed: alpha-hydroxylase1720-lyase
Page 1
17 alpha-Hydroxylase/17,20-lyase defects.
Yanase T. Yanase T. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):153-7. doi: 10.1016/0960-0760(95)00029-y. J Steroid Biochem Mol Biol. 1995. PMID: 7626447 Review.
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase/17/20-lyase deficiency is caused by genetic defects in the gene encoding P450c17 (CYP17). ...Several mutations have been reconstructed in human P450c17 cDNA and expressed in COS cells to characterize …
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase/17/20-lyase deficiency is caused by genetic defects in the g …
Molecular basis of 17alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Imai T, Simpson ER, Waterman MR. Yanase T, et al. J Steroid Biochem Mol Biol. 1992 Dec;43(8):973-9. doi: 10.1016/0960-0760(92)90325-D. J Steroid Biochem Mol Biol. 1992. PMID: 22217842 Review.
The clinical manifestations of 17alpha-hydroxylase/17,20-lyase deficiency seem to be more heterogeneous than expected, varying from the classical type to less symptomatic forms as also observed in 21-hydroxylase deficiency. ...In one case clinically reported …
The clinical manifestations of 17alpha-hydroxylase/17,20-lyase deficiency seem to be more heterogeneous than expected, varying …
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.
Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. Kagimoto M, et al. Mol Endocrinol. 1988 Jun;2(6):564-70. doi: 10.1210/mend-2-6-564. Mol Endocrinol. 1988. PMID: 2843762
Steroid 17 alpha-hydroxylase (cytochrome P-450 17 alpha) catalyzes both 17 alpha-hydroxylation of pregnenolone and progesterone and 17,20-lysis of 17 alpha-hydroxypregnenolone and 17 alpha-hydroxyprogesterone. ...A protocol for exonic seq …
Steroid 17 alpha-hydroxylase (cytochrome P-450 17 alpha) catalyzes both 17 alpha-hydroxylation of pregnenolone and prog …
Chronic Candidiasis in Children.
Green L, Dolen WK. Green L, et al. Curr Allergy Asthma Rep. 2017 May;17(5):31. doi: 10.1007/s11882-017-0699-9. Curr Allergy Asthma Rep. 2017. PMID: 28429308 Review.
RECENT FINDINGS: CMC can arise secondary to inherited or acquired T cell deficiencies, but in children is largely due to inborn errors impairing the dectin pathway and IL-17 immunity. ...We highlight the historical and recent knowledge of CMC in children, emphasizin …
RECENT FINDINGS: CMC can arise secondary to inherited or acquired T cell deficiencies, but in children is largely due to inborn error …
Nutritional Screening and Assessment in Different Populations.
Aparicio A, Lozano-Estevan MDC. Aparicio A, et al. Nutrients. 2025 Apr 30;17(9):1525. doi: 10.3390/nu17091525. Nutrients. 2025. PMID: 40362837 Free PMC article.
Nutritional assessment in different populations is a key strategy in both clinical practice and public health, and systematic nutritional screening helps detect early indicators of malnutrition, which may include undernutrition, obesity, or specific micronutrient deficiencies …
Nutritional assessment in different populations is a key strategy in both clinical practice and public health, and systematic nutritional sc …
Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
Laflamme N, Leblanc JF, Mailloux J, Faure N, Labrie F, Simard J. Laflamme N, et al. J Clin Endocrinol Metab. 1996 Jan;81(1):264-8. doi: 10.1210/jcem.81.1.8550762. J Clin Endocrinol Metab. 1996. PMID: 8550762
In contrast to CAH caused by 21 alpha-hydroxylase and 11 beta-hydroxylase deficiencies, which impairs steroid formation in the adrenal exclusively, 17 alpha-hydroxylase/17,20-lyase deficiency impairs steroid biosynthesis in the adrenals and gonads. ... …
In contrast to CAH caused by 21 alpha-hydroxylase and 11 beta-hydroxylase deficiencies, which impairs steroid formation in the adrena …
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.
Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR. Yanase T, et al. Mol Cell Endocrinol. 1988 Oct;59(3):249-53. doi: 10.1016/0303-7207(88)90110-4. Mol Cell Endocrinol. 1988. PMID: 3263289
A relatively rare disease, 17 alpha-hydroxylase deficiency is characterized by defects in either or both of these activities. ...We have determined the exonic sequence of the mutant P-450(17)alpha gene from one Japanese patient with combined 17 alpha-h …
A relatively rare disease, 17 alpha-hydroxylase deficiency is characterized by defects in either or both of these activities. …
Human MALT1 deficiency and predisposition to infections.
Lu HY, Turvey SE. Lu HY, et al. Curr Opin Immunol. 2021 Oct;72:1-12. doi: 10.1016/j.coi.2021.02.008. Epub 2021 Mar 11. Curr Opin Immunol. 2021. PMID: 33714841 Review.
Human germline MALT1 deficiency is an inborn error of immunity characterized by recurrent bacterial, viral, and fungal infections, periodontal disease, enteropathy, dermatitis, and failure to thrive. ...Enhanced susceptibility to S. aureus and C. albicans is likely due to …
Human germline MALT1 deficiency is an inborn error of immunity characterized by recurrent bacterial, viral, and fungal infections, pe …
Truly selective primary IgM deficiency is probably very rare.
Janssen LMA, Macken T, Creemers MCW, Pruijt JFM, Eijk JJJ, de Vries E. Janssen LMA, et al. Clin Exp Immunol. 2018 Feb;191(2):203-211. doi: 10.1111/cei.13065. Epub 2017 Oct 27. Clin Exp Immunol. 2018. PMID: 28984901 Free PMC article. Review.
However, the reported high prevalence of clinical problems in IgM-deficient patients may reflect the skewed tertiary centre population studied so far. Also, many papers on IgM deficiency have included patients with more abnormalities than simply IgM-deficiency …
However, the reported high prevalence of clinical problems in IgM-deficient patients may reflect the skewed tertiary centre populatio …
Minerals and Human Health: From Deficiency to Toxicity.
Razzaque MS, Wimalawansa SJ. Razzaque MS, et al. Nutrients. 2025 Jan 26;17(3):454. doi: 10.3390/nu17030454. Nutrients. 2025. PMID: 39940312 Free PMC article. Review.
Examples include bone development, enzyme function, nerve signaling, and the immune response. Both the deficiencies and toxicities of minerals can have significant health implications. Deficiencies in macrominerals such as calcium, magnesium, and phosphate can lead …
Examples include bone development, enzyme function, nerve signaling, and the immune response. Both the deficiencies and toxicities of …
52,664 results
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