Results 41 to 50 of about 57,151 (301)

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency [PDF]

, 2015
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11βOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11βOHD (AC21,11OHD) have been ...
Kater C.E., De Mello M.P., Lemos-Marini S.H.V., Tonetto-Fernandes V., Ribeiro-Neto L.M.   +4 more
core  

21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency [PDF]

, 2008
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD and 11 beta OHD (AC21,11OHD ...
Ribeiro-Neto, Luciane Maria [UNIFESP], Mello, Maricilda Palandi de, Tonetto-Fernandes, Vânia [UNIFESP], Kater, Claudio Elias [UNIFESP], Lemos-Marini, Sofia Helena Valente de   +4 more
core   +1 more source

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

Life, 2023
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser, Genevieve Escher, Anca-Elena Calin, Michael Deppeler, Miriam Marchon, Hiten D. Mistry, Johann Kurz, Markus G. Mohaupt   +7 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency [PDF]

, 2009
Context: 21-Hydroxylase deficiency (21OHD) is caused by CYP21A2 gene mutations disrupting the adrenal 21-hydroxylase, P450c21. CYP21A2 mutations generally correlate well with the 21OHD phenotype, but some children with severe CYP21A2 mutations have ...
AGRAWAL, Vishal, MENDONCA, Berenice B., HUANG, Ningwu, GOMES, Larissa G., BACHEGA, Tania A. S. S., MILLER, Walter L.   +5 more
core   +1 more source

Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Urology Case Reports
Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches.
Rawa Bapir, Ismaeel Aghaways, Shaho F. Ahmed, Nali H. Hama, Ari M. Abdullah, Soran H. Tahir, Zana B. Najmadden, Fahmi H. Kakamad, Aso N. Qadir, Tomas M. Mikael   +9 more
doaj   +1 more source

Lipid Nanoparticle Co‐Delivery of mRNA and a Small Molecule Drug for Oral Cancer Chemoimmunotherapy

Advanced Materials, EarlyView.
Co‐encapsulation of p53 mRNA and the small molecule ciclopirox within a lipid nanoparticle yields an all‐in‐one chemoimmunotherapy for oral squamous cell carcinoma. The platform engages caspase‐driven apoptosis in cancer cells while repolarizing tumor‐associated macrophages, achieving tumor reduction in both p53‐susceptible and p53‐resistant models and
Marshall S. Padilla, Jacqueline J. Li, Qunzhou Zhang, Korey Patwari, Shihong Shi, Hannah M. Yamagata, Ryann A. Joseph, Briyanna N. Hymms, Sridatta V. Teerdhala, Emily Fitzgerald, Ori Z. Chalom, Kushol Gupta, Mohamad‐Gabriel Alameh, Drew Weissman, Anh D. Le, Michael J. Mitchell   +15 more
wiley   +1 more source

Hiperplasia congênita de supra-renal por deficiência da 21-hidroxilase: altura final de 17 pacientes com a forma clássica. [PDF]

, 2006
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Ribas, Déborah Cristina
core  

Microcephaly with ambiguous genitalia

Medical Journal of Dr. D.Y. Patil University, 2015
Ambiguous external genitalia could cause parental emotional trauma especially in an African setting where early gender assignment is an integral part of our culture.
Ibrahim Aliyu
doaj   +1 more source