Results 61 to 70 of about 2,389,640 (367)

A necroptosis‐related gene signature for predicting prognosis, immune landscape, and drug sensitivity in hepatocellular carcinoma

Cancer Medicine, Volume 11, Issue 24, Page 5079-5096, December 2022., 2022
Necroptosis is a newly discovered form of cell necrosis that plays a vital role in cancer development. We identified a necroptosis‐related gene signature based on the TCGA cohort, which was validated externally in the ICGC‐LIRI‐JP and GSE14520 cohorts.
Junliang Chen, Huaitao Wang, Lei Zhou, Zhihao Liu, Hui Chen, Xiaodong Tan   +5 more
wiley   +1 more source

Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency [PDF]

, 2010
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.
Araujo-Vilar, D., Arlt, Wiebke, Castro-Feijoo, L., Cole, T. R., Conway, G. S., Dhir, V., Dominguez, F., Hampel, R., Kaminsky, E., Kirk, J. M., Krone, Nils, Loidi, L., Parajes, S., Pombo, M., Quinkler, M., Reisch, N., Rose, I. T., Rumsby, G., Williams, E. L.   +18 more
core   +2 more sources

Identificación de mutaciones puntuales del gen de la 21-hidroxilasa en pacientes afectados con hiperplasia suprarrenal congénita.

Biomédica: revista del Instituto Nacional de Salud, 2005
lntroducción. La hiperplasia suprarrenal congénita es un trastorno autosómico recesivo debido a la inadecuada secreción de cortisol. Mas del 95% de los casos de hiperplasia suprarrenal congénita son causados por defectos del gen de la 21 hidroxilasa ...
Dora Fonseca, Andrés Gutiérrez, Claudia Silva, Mauricio Coll, Gustavo Malo, Camilo Orjuela, Alejandro Giraldo   +6 more
doaj   +1 more source

11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency

Journal of Clinical Endocrinology and Metabolism, 2017
Context: Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment.
Adina F. Turcu, A. Mallappa, M. Elman, N. Avila, Jamie Marko, Hamsini Rao, A. Tsodikov, R. Auchus, D. Merke   +8 more
semanticscholar   +1 more source

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]

, 2018
Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio, Bornstein, El-Maouche, Falhammar, Falhammar, Falhammar, Fleming, Gidlof, Gleeson, Hahner, Hahner, Huynh, Ishii, Kampmeyer, Khalid, Leblicq, Maguire, Merke, Neumann, Reisch, Rushworth, Rushworth, Rushworth, Rushworth, Speiser, Swerdlow   +25 more
core   +2 more sources

Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis [PDF]

Journal of Clinical and Diagnostic Research
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in steroid synthesis. It is characterised by a deficiency of adrenocortical hormones and an excess of steroid precursors.
Dinkar Yadav, Poonam Dalal, Kapil Bhalla, Geeta Gathwala   +3 more
doaj   +1 more source

Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences

European Journal of Case Reports in Internal Medicine, 2021
Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.
Jack Lin, Teck K Khoo, Erin R Voelschow, Zachary J Viets   +3 more
doaj   +1 more source

21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia [PDF]

, 2009
Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCR-sequencing the entire CYP21 gene. 25/26 had homozygous or compound heterozygous mutations.
Asanuma A, Bachega TA, Balsamo A, Bobba A, Carrera P, Christensen K, Cotton RG, Dracopoulou VM, Fitness J, Gozzi TG, Kawaguchi H, Koppens PF, Krawinkel U, Krone N, Lako M, Lee HH, Lee HH, Levine LS, Levo A, Lupski JR, Mornet E, New MI, Ohlsson G, Pang S, Smith GR, Speiser PW, Wedell A, Weintrob N, Weintrob N, Wilson RC, Wu S, Zeng X   +31 more
core   +1 more source

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Frontiers in Genetics, 2022
Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song, Andrea Gropman, Andrea Gropman, Robert W. Benjamin, Francie Mitchell, Michaela R. Brooks, Mary P. Hamzik, Kira Sampson, Ritika Kommareddi, Teresa Sadeghin, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse   +12 more
doaj   +1 more source

Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study

International Journal of Pediatric Endocrinology, 2017
BackgroundGenital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as ...
P. Bougnères, C. Bouvattier, M. Cartigny, L. Michala   +3 more
semanticscholar   +1 more source