FDXR variants cause adrenal insufficiency and atypical sexual development
Open accessAbstract
Genetic defects affecting steroid biosynthesis cause cortisol deficiency and differences of sex development; among these defects are recessive mutations in the steroidogenic enzymes CYP11A1 and CYP11B, whose function is supported by reducing equivalents donated by ferredoxin reductase (FDXR) and ferredoxin. So far, mutations in the mitochondrial flavoprotein FDXR have been associated with a progressive neuropathic mitochondriopathy named FDXR-related mitochondriopathy (FRM), but cortisol insufficiency has not been documented. However, patients with FRM often experience worsening or demise following stress associated with infections. We investigated 2 female patients with FRM carrying the potentially novel homozygous FDXR mutation p.G437R with ambiguous genitalia at birth and sudden death in the first year of life; they presented with cortisol deficiency and androgen excess compatible with 11-hydroxylase deficiency. In addition, steroidogenic FDXR-variant cell lines reprogrammed from 3 patients with FRM fibroblasts displayed deficient mineralocorticoid and glucocorticoid production. Finally, Fdxr-mutant mice allelic to the severe p.R386W human variant showed reduced progesterone and corticosterone production. Therefore, our comprehensive studies show that human FDXR variants may cause compensated but possibly life-threatening adrenocortical insufficiency in stress by affecting adrenal glucocorticoid and mineralocorticoid synthesis through direct enzyme inhibition, most likely in combination with disturbed mitochondrial redox balance.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Review of previously published cases of FRM showed that 20/77 (26%) of these patients also had a history of severe, often life-threatening events or deadly infections suggestive of adrenal insufficiency.
“Review of the previously published cases of FRM showed that 20/77 (26%) of these patients also had a history of severe, often life-threatening events or deadly infections suggestive of adrenal insufficiency ( 111 ).”
From Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy (2025) · cites this paper as [111]
A very recent study has now shown adrenal insufficiency in 2 severely affected siblings with FRM, DSD, and hypertension, with a steroid pattern suggesting 11-hydroxylase deficiency.
“A very recent study has now shown such adrenal insufficiency in 2 severely affected siblings with FRM, DSD, and hypertension, with a steroid pattern suggesting 11-hydroxylase deficiency ( 111 ).”
From Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy (2025) · cites this paper as [111]
The previously reported mice carrying the Fdxr R389Q mutation also had impaired adrenal function, with impaired corticosterone synthesis, indicative of defective FDXR-supported activity of 11β-hydroxylase (CYP11B1).
“This study also showed that the previously reported mice carrying the Fdxr R389Q mutation also had impaired adrenal function, with impaired corticosterone synthesis, indicative of defective FDXR-supported activity of 11β-hydroxylase (CYP11B1).”
From Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy (2025) · cites this paper as [111]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Protein secondary structure prediction based on position-specific scoring matrices.
Jones, D. C. (1999) · Journal of Molecular Biology · doi:10.1006/jmbi.1999.3091 · Cited by 5,741 · see citing works
Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2
Adzhubei, I., Jordan, D. M., & Sunyaev, S. R. (2013) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0720s76 · Cited by 3,705 · see citing works
WHAT IF: A molecular modeling and drug design program
Vriend, G. (1990) · Journal of Molecular Graphics · doi:10.1016/0263-7855(90)80070-v · Cited by 3,476 · see citing works
Ashkenazy, H., Abadi, S., Martz, E., Chay, O., Mayrose, I., Pupko, T., & Ben-Tal, N. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw408 · Cited by 3,163 · see citing works
A more efficient method to generate integration-free human iPS cells
Okita, K., Matsumura, Y., Sato, Y., Okada, A., Morizane, A., Okamoto, S., Hong, H., Nakagawa, M., Tanabe, K., Tezuka, K.-I., et al. (2011) · Nature Methods · doi:10.1038/nmeth.1591 · Cited by 2,061 · see citing works
Mitochondria are the powerhouses of immunity
Mills, E. L., Kelly, B., & O'Neill, L. A. J. (2017) · Nature Immunology · doi:10.1038/ni.3704 · Cited by 1,161 · see citing works
New ways to boost molecular dynamics simulations
Krieger, E., & Vriend, G. (2015) · Journal of Computational Chemistry · doi:10.1002/jcc.23899 · Cited by 1,109 · see citing works
DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability
Rodrigues, C. H., Pires, D. E., & Ascher, D. B. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky300 · Cited by 1,086 · see citing works
mCSM: Predicting the effects of mutations in proteins using graph-based signatures
Pires, D. E. V., Ascher, D. B., & Blundell, T. L. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btt691 · Cited by 1,066 · see citing works
A series of PDB related databases for everyday needs
Joosten, R., Beek, T. T. T., Krieger, E., Hekkelman, M., Hooft, R., Schneider, R., Sander, C., & Vriend, G. (2010) · Nucleic Acids Res. · doi:10.1093/nar/gkq1105 · Cited by 1,050 · see citing works
A series of PDB-related databanks for everyday needs
Touw, W. G., Baakman, C. A. B., Black, J., Beek, T. A. H. T., Krieger, E., Joosten, R. P., & Vriend, G. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku1028 · Cited by 936 · see citing works
Pires, D. E. V., Ascher, D. B., & Blundell, T. L. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku411 · Cited by 932 · see citing works
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
Bose, H. S., Sugawara, T., Strauss, J. F., & Miller, W. L. (1996) · New England Journal of Medicine · doi:10.1056/nejm199612193352503 · Cited by 676 · see citing works
Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.177 · Cited by 607 · see citing works
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics · doi:10.1038/ng1300 · Cited by 509 · cited 1× · see citing works
“Cortisol deficiency with POR deficiency, the obligate redox partner of all type 2 endoplasmic P450s enzymes (24), is only clinically relevant upon severe stress, while its effect on sex steroids is often most prominent, manifesting with a wide spectrum (25).”
BackgroundParikh, S., Goldstein, A. C., Karaa, A., Koenig, M. K., Anselm, I. A., Brunel‐Guitton, C., Christodoulou, J., Cohen, B. H., Dimmock, D., Enns, G. M., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.107 · Cited by 298 · see citing works
NADPH P450 oxidoreductase: Structure, function, and pathology of diseases
Pandey, A. V., & Flück, C. E. (2013) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2013.01.010 · Cited by 279 · see citing works
Meimaridou, E., Kowalczyk, J., Guasti, L., Hughes, C. R., Wagner, F., Frommolt, P., Nürnberg, P., Mann, N. P., Banerjee, R., Saka, H. N., et al. (2012) · Nature Genetics · doi:10.1038/ng.2299 · Cited by 259 · see citing works
Müller, J. J., Ag, L., Bourenkov, G. P., Ruckpaul, K., & Heinemann, U. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008501200 · Cited by 167 · see citing works
Khattab, A., Haider, S. M., Kumar, A., Dhawan, S., Alam, D., Romero, R., Burns, J., Li, D., Estatico, J., Rahi, S., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1621082114 · Cited by 158 · see citing works
Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
Prasad, R., Chan, L. F., Hughes, C. R., Kaski, J. P., Kowalczyk, J., Savage, M. O., Peters, C. J., Nathwani, N., Clark, A., Storr, H. L., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3844 · Cited by 137 · see citing works
PKA inhibits WNT signalling in adrenal cortex zonation and prevents malignant tumour development
Drelon, C., Berthon, A., Sahut-Barnola, I., Mathieu, M., Dumontet, T., Rodriguez, S., Batisse-Lignier, M., Tabbal, H., Tauveron, I., Lefrançois-Martinez, A.-M., et al. (2016) · Nature Communications · doi:10.1038/ncomms12751 · Cited by 128 · see citing works
Freeman, M. R., Dobritsa, A., Gaines, P., Segraves, W. A., & Carlson, J. R. (1999) · Development · doi:10.1242/dev.126.20.4591 · Cited by 119 · see citing works
Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.007 · Cited by 95 · see citing works
Oxidative stress and adrenocortical insufficiency
Prasad, R., Kowalczyk, J. C., Meimaridou, E., Storr, H. L., & Metherell, L. (2014) · Journal of Endocrinology · doi:10.1530/joe-13-0346 · Cited by 82 · see citing works
The Tertiary Structure of Full-Length Bovine Adrenodoxin Suggests Functional Dimers
Pikuleva, I. A., Tesh, K. F., Waterman, M. R., & Kim, Y. (2000) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1999.1536 · Cited by 81 · see citing works
The changing face of adrenoleukodystrophy
Zhu, J., Eichler, F., Biffi, A., Duncan, C. N., Williams, D. A., & Majzoub, J. A. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa013 · Cited by 78 · see citing works
Keizers, P. H. J., Mersinli, B., Reinle, W., Donauer, J., Hiruma, Y., Hannemann, F., Overhand, M., Bernhardt, R., & Ubbink, M. (2010) · Biochemistry · doi:10.1021/bi100598f · Cited by 74 · see citing works
Ziegler, G. A., & Schulz, G. E. (2000) · Biochemistry · doi:10.1021/bi000079k · Cited by 71 · see citing works
Rapoport, R., Sklan, D. J., & Hanukoglu, I. (1995) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1995.1182 · Cited by 65 · see citing works
Adrenal cortex development and related disorders leading to adrenal insufficiency
Pignatti, E., & Flück, C. E. (2021) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2021.111206 · Cited by 63 · see citing works
Li, L., Li, Y., Sottas, C. M., Culty, M., Fan, J., Hu, Y., Cheung, G., Chemes, H., & Papadopoulos, V. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1908207116 · Cited by 61 · see citing works
Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J.-S., Rosenfeld, J., Truitt Cho, M., Chamberlin, A., Li, Z., Liu, J., Gui, B., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx377 · Cited by 60 · see citing works
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Rocatcher, A., Desquiret‐Dumas, V., Charif, M., Ferré, M., Gohier, P., Mirebeau‐Prunier, D., Verny, C., Miléa, D., Lenaers, G., HON Collaborators Group, et al. (2022) · Brain · doi:10.1093/brain/awac395 · Cited by 47 · see citing works
Aigueperse, C., Martinez, A., Lefrançois-Martinez, A.-M., VEYSSIERE, G., & Jean, C. (1999) · Journal of Endocrinology · doi:10.1677/joe.0.1600147 · Cited by 45 · see citing works
Integrated analysis of the molecular pathogenesis of FDXR-associated disease
Slone, J. D., Yang, L., Peng, Y., Queme, L. F., Harris, B. S., Rizzo, S. J. S., Green, T., Ryan, J. L., Jankowski, M. P., Reinholdt, L. G., et al. (2020) · Cell Death and Disease · doi:10.1038/s41419-020-2637-3 · Cited by 42 · see citing works
Griffin, A., Parajes, S., Weger, M., Zaucker, A., TAYLOR, A. E. R., O’Neil, D. M., Müller, F., & Krone, N. P. (2015) · Endocrinology · doi:10.1210/en.2015-1480 · Cited by 41 · see citing works
Andrieu, T., du Toit, T., Vogt, B., Mueller, M. D., & Groessl, M. (2022) · Analytical and Bioanalytical Chemistry · doi:10.1007/s00216-022-03881-3 · Cited by 41 · see citing works
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
Slone, J., Peng, Y., Chamberlin, A., Harris, B., Kaylor, J., McDonald, M. T., Lemmon, M., El-Dairi, M. A., Tchapyjnikov, D., Gonzalez-Krellwitz, L. A., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0515-y · Cited by 37 · see citing works
Self-citationYablokov, E. O., Sushko, T. A., Ershov, P. V., Florinskaya, A. V., Gnedenko, O. V., Shkel, T. V., Grabovec, I. P., Strushkevich, N. V., Kaluzhskiy, L. A., Usanov, S. A., et al. (2019) · Biochimie · doi:10.1016/j.biochi.2019.04.020 · Cited by 33 · see citing works
Laemmle, A., Poms, M., Hsu, B. Y., Borsuk, M., Rüfenacht, V., Robinson, J. F., Sadowski, M. C., Nuoffer, J., Häberle, J., & Willenbring, H. (2021) · Hepatology · doi:10.1002/hep.32247 · Cited by 27 · see citing works
Oakes, J., Li, N., Wistow, B., Griffin, A., Barnard, L., Storbeck, K., Cunliffe, V. T., & Krone, N. P. (2019) · Endocrinology · doi:10.1210/en.2019-00068 · Cited by 24 · see citing works
Steroidogenic electron-transfer factors and their diseases
Miller, W. L. (2021) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2142154.077 · Cited by 24 · see citing works
Stenton, S. L., Piekutowska‐Abramczuk, D., Kulterer, L., Kopajtich, R., Claeys, K. G., Ciara, E., Eisen, J., Płoski, R., Pronicka, E., Malczyk, K., et al. (2020) · Human Mutation · doi:10.1002/humu.24160 · Cited by 23 · see citing works
Adrenal Dysfunction in Mitochondrial Diseases
Corkery-Hayward, M., & Metherell, L. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24021126 · Cited by 19 · see citing works
Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Jurkutė, N., Shanmugarajah, P. D., Hadjivassiliou, M., Higgs, J. E., Vojcic, M., Horrocks, I. A., Nadjar, Y., Touitou, V., Lenaers, G., Poh, R., et al. (2021) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.62.6.2 · Cited by 18 · see citing works
Song, S., Xu, K., & Zhang, C. (2021) · International Journal of Ophthalmology · doi:10.18240/ijo.2021.11.22 · Cited by 13 · see citing works
Yang, C., Zhang, Y., Li, J., Song, Z., Yi, Z., Li, F., Xue, J., Zhang, V. W., & Wang, C. (2021) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10104 · Cited by 13 · see citing works
Yi, S., Zheng, Y., Yi, Z., Wang, Y., Jiang, Y., Ouyang, J., Li, S., Xiao, X., Sun, W., Wang, P., et al. (2023) · Genes · doi:10.3390/genes14040952 · Cited by 12 · see citing works
Masnada, S., Previtali, R., Erba, P. A., Beretta, E., Camporesi, A., Chiapparini, L., Doneda, C., Iascone, M. R., Sartorio, M. U. A., Spaccini, L., et al. (2023) · Neurological Sciences · doi:10.1007/s10072-023-06790-0 · Cited by 10 · see citing works
Cholesterol Deprivation Drives DHEA Biosynthesis in Human Adrenals
Pignatti, E., Altınkılıç, E. M., Bräutigam, K., Größl, M., Perren, A. A., Zavolan, M., & Flück, C. E. (2022) · Endocrinology · doi:10.1210/endocr/bqac076 · Cited by 7 · see citing works
Siri, B., D’Alessandro, A., Maiorana, A., Porzio, O., Ravà, L., Dionisi‐Vici, C., Cappa, M., & Martinelli, D. (2023) · European Journal of Endocrinology · doi:10.1093/ejendo/lvad137 · Cited by 6 · see citing works
Campbell, T., Slone, J. D., Metzger, H., Liu, W., Sacharow, S. J., Yang, A., Moosajee, M., Morgia, C. L., Carelli, V., Palombo, F., et al. (2023) · Genetics in Medicine Open · doi:10.1016/j.gimo.2023.100841 · Cited by 5 · see citing works
Flagged first, then by citations
1 of the 54 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- [1]Miller WL, et al. The Adrenal Cortex and Its Disorders. In: Sperling MA, ed. Sperling Pediatric Endocrinology, 5th Edition. Elsevier; 2020:425–490.
Cited by
Sorted by citations
Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer
Yakubu, J., Natsaridis, E., du Toit, T., Barata, I. S., Tagit, O., & Pandey, A. V. (2025) · Scientific Reports · doi:10.1038/s41598-025-98102-z · Cited by 24 · see citing works
Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy
Miller, W. L., Pandey, A. V., & Flück, C. E. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae815 · Cited by 17 · see citing works
Thirty years of StAR gazing. Expanding the universe of the steroidogenic acute regulatory protein
Miller, W. L. (2025) · Journal of Endocrinology · doi:10.1530/joe-24-0310 · Cited by 13 · see citing works
Campbell, T., Slone, J. D., Vu, J., Liu, W., Yang, L., Dourson, A. J., Queme, L. F., Jankowski, M. P., & Huang, T. (2025) · Cell Death Discovery · doi:10.1038/s41420-025-02840-y · Cited by 4 · see citing works
Nakajima, K., Mohibi, S., Hong, K., Chen, X., & Zhang, J. (2025) · Cells · doi:10.3390/cells15010062 · Cited by 1 · see citing works
Flück, C. E., Yakubu, J. Y., & Pandey, A. V. (2026) · Endocrinology · doi:10.1007/978-3-319-29456-8_10-2 · Cited by 1 · see citing works
A single-cell atlas inclusive of age-related menopause reveals global tissue and ovarian remodelingPreprint
VanBenschoten, H. M., Nugmanova, Z., Olmsted, A. M., Huang, R., Annepureddy, L. D., Gingerich, I. K., Kratka, C. E., Duncan, F. E., Kholod, O., & Goods, B. A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.20.660779
Human P450 oxidoreductase deficiency
Pandey, A. V., Barata, I. S., & Flück, C. E. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00259-4
Disorders of the Adrenal Cortex in the Fetus and Neonate
Flück, C. E., du Toit, T., & Miller, W. L. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-23940-3.00035-1
Differences of sex development: from gene discovery to clinically actionable genomics
de la Piscina, I. M., Kouri, C., & Flück, C. E. (2026) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001595
A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis
Averina, O. A., Kalinchenko, N. Y., Ioutsi, V. A., Pirogov, A. V., Bogachev, A. V., Permyakov, O. A., Buev, V. S., Guseva, E. A., Priymak, A. V., Bazhanova, O. A., et al. (2026) · JCI Insight · doi:10.1172/jci.insight.198799
Paul, A., Lahlou, G., Achard, S., Nevoux, J., Mosnier, I., Rouillon, I., Nguyen, Y., Benali, M., Papon, J., Rötig, A., et al. (2026) · Human Mutation · doi:10.1155/humu/5928629
- Authors
- Pignatti, E., Slone, J., Gómez Cano, M. Á., Campbell, T. M., Vu, J., Sauter, K.-S., Pandey, A. V., Martínez-Azorín, F., Alonso-Riaño, M., Neilson, D. E., Longo, N., du Toit, T., Voegel, C. D., Huang, T., & Flück, C. E.
- Affiliations
- University of Bern (CH)
- University at Buffalo, State University of New York (US)
- Department of Pediatrics, Endocrinology Unit, and
- Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre (imas12), E-28041 Madrid, Spain.
- Pathology Department, 12 de Octubre University Hospital, Madrid, Spain.
- University of Arizona College of Medicine- Phoenix (US)
- University of Utah (US)
- Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and
- Corresponding author
- Flück, Christa E.
- ORCID
- Venue
- JCI Insight
- Published
- 2024-06-17
- Volume
- 9
- Issue
- 14
- ISSN
- 2379-3708 (ISSN-L)
- PMC
- PMC11383170
- OpenAlex
- W4399728102
- Cited by
- 12
- References
- 54
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 1
- FWCI
- 3.93
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- JCI Insight (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- Swiss National Science Foundation (SNF 320030-146127)
- McKeefrey Pediatric Genetics Foundation (Grant for Pediatric Genetics)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- ferredoxin reductase, adrenal insufficiency, cortisol deficiency, ambiguous genitalia, CYP11B, CYP11A1, mitochondrial flavoprotein, mineralocorticoid synthesis, glucocorticoid synthesis, mitochondrial redox balance, fibroblast reprogramming
- MeSH terms
- Adrenal Insufficiency, Animals, Female, Ferredoxin-NADP Reductase, Fibroblasts, Humans, Hydrocortisone, Infant, Male, Mutation, Disorders of Sex Development, Mitochondrial Diseases, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
