Results 41 to 50 of about 57,073 (302)

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

Journal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair   +2 more
doaj   +1 more source

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

A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility

Diagnostics, 2023
Introduction: Congenital adrenal hyperplasia is caused by deficiencies in a number of enzymes involved in hormone biosynthesis in the adrenal glands or sexual glands.
Hideaki Kaneto, Hayato Isobe, Junpei Sanada, Fuminori Tatsumi, Tomohiko Kimura, Masashi Shimoda, Shuhei Nakanishi, Kohei Kaku, Tomoatsu Mune   +8 more
doaj   +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  

The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome

, 1997
Objective: To determine the frequency of late-onset adrenal hyperplasia (LOCAH) due to 21-hydroxylase (21-OH) and 11 beta-hydroxylase (11 beta-OH) deficiency in women with clinical and biochemical features of polycystic ovary syndrome (PCOS)
Sahin, Yılmaz, Kelestimur, F
core   +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

Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review

Pharmacogenomics and Personalized Medicine, 2021
Jimilanmu Maimaitiming,1 Guli Amuti,1 AiHeMaiTiJiang TuHuTi,1 Yuan Chen,1 Xiang-Xin Song,1 Jing Wang,1 Adila Alimu,1 Kaidi Zhang,1 Munila Abudounaiyimu,1 Jun Jiang,2 Xin-Ling Wang,1 Yan-Ying Guo1 1People’ s Hospital of Xinjiang Uygur Autonomous ...
Maimaitiming J, Amuti G, TuHuTi A, Chen Y, Song XX, Wang J, Alimu A, Zhang K, Abudounaiyimu M, Jiang J, Wang XL, Guo YY   +11 more
doaj  

CYP21A2 intronic variants causing 21-hydroxylase deficiency

, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P ...
Cecilia Zuppi, Capoluongo E, Rizza R, Zuppi C, Carrozza, C, Alessandra Costella, Cinzia Carrozza, Capoluongo, E., Rizza, R, Concolino P, Costella A, Paola Concolino, Roberta Rizza, Ettore Capoluongo, Costella, A, Zuppi, C, Carrozza C   +16 more
core   +1 more source

Mechanoluminescent HOF Nanotransducers Enabled Sono‐Optogenetics in Parkinsonian Rats

Advanced Functional Materials, EarlyView.
We present a mechanoluminescent system utilizing porous hydrogen‐bonded organic frameworks (HOFs) as a toolkit for focused ultrasound‐triggered, non‐invasive light delivery to the deep brain in rats. This approach enables the specific activation of PV‐GPe neurons in dopamine‐depleted Parkinson's disease rat models, resulting in a comparable alleviation
Wenliang Wang, Ilya Pyatnitskiy, Yanshu Shi, Kai Wing Kevin Tang, Yi Xie, Sihan Yu, Thomas Wynn, Xiangping Liu, Ju‐Chun Hsieh, Jinmo Jeong, Weilong He, Brinkley Artman, Anakaren Romero Lozano, Xi Shi, Arjun Sangani, Lief E Fenno, Samantha Santacruz, Banglin Chen, Huiliang Wang   +18 more
wiley   +1 more source

Papulocistic lesions of the face: the tip of the iceberg

Senses and Sciences, 2015
Acne is a manifestation of hormonal overstimulation of the pilosebaceous units of genetically susceptible individuals and may manifest in the form of comedonic, papulopustular or nodular lesions. It can present as an isolated disease or in the context of
Nevena Skroza, Sara Zuber, Ersilia Tolino, Ilaria Proietti, Nicoletta Bernardini, Riccardo Pampena, Veronica Balduzzi, Giorgio La Viola, Concetta Potenza   +8 more
doaj   +1 more source