Results 191 to 200 of about 119,945 (311)

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. [PDF]

Genes (Basel)
de Sousa Azulay RS, Facundo AN, Sousa SSE, Nascimento GC, Magalhães M, de Oliveira Neto CP, de Abreu JDMF, Lago DCF, da Silva Pereira Damianse S, de Carvalho VC, Nascimento CA, Rodrigues VP, Coeli-Lacchini FB, de Castro M, Dos Santos Faria M.   +14 more
europepmc   +1 more source

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency [PDF]

J Clin Res Pediatr Endocrinol
Odabaşı Güneş S, Peltek Kendirci HN, Ünal E, Buluş AD, Dündar İ, Şıklar Z.   +5 more
europepmc   +1 more source

Lactate Accelerates Early Angiogenesis and Bone Regeneration Through Macrophage M1 Polarisation

Cell Proliferation, EarlyView.
During the early stage of bone defect healing, lactate accumulates and contributes to increasing NOD1 expression by stabilising HIF1α that in turn triggers a calcium influx, which ultimately polarises macrophages towards the M1 phenotype and accelerates vascularisation of endothelial cells.
Lulu Liu, Danning Ma, Jia Song, Boon Chin Heng, Ying Huang, Xuehui Zhang, Mingming Xu, Yan Wei, Tai Wei, Jinqi Wei, Xuliang Deng   +10 more
wiley   +1 more source

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications. [PDF]

J Endocr Soc
Concolino P, Falhammar H.
europepmc   +1 more source

Next‐Generation Strategies for Neural Repair and Regeneration: Neural Organoid Transplantation in the CNS

Cell Proliferation, EarlyView.
Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang, Jinrui Li, Xingjia Mao, Wanyu Wang, Yansong Li, Xuefei Hu, Jinjie Zhong, Fengdong Zhao, Linlin Wang   +8 more
wiley   +1 more source

Urethral stricture in a 46,XX male with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: A literature review and case report. [PDF]

Urol Case Rep
Gallardo Zamora L, Quiroz Madarriaga Y, Bujons Tur A, Sanchez I Puy A, Salinas Duffo D, Peña Gonzalez JA.   +5 more
europepmc   +1 more source

Oxygen‐independent expression of HIF‐1α during the cell cycle in hepatocellular carcinoma cells controls essential metabolic pathways under normoxia

The FEBS Journal, EarlyView.
In Huh7 cells, HIF‐1α is essential as it maintains the expression of proteins involved in glycolysis and steroid/cholesterol biosynthesis both under normoxia and hypoxia. On the other hand, in HeLa cells, these pathways are induced by HIF‐1α only under hypoxia.
Ioanna‐Maria Gkotinakou, Christina Arseni, Kreon Koukoulas, Martina Samiotaki, George Panayotou, George Simos, Ilias Mylonis   +6 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source