Results 61 to 70 of about 75,245 (306)

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

Gender Differences in Bile Acids and Microbiota in Relationship with Gender Dissimilarity in Steatosis Induced by Diet and FXR Inactivation. [PDF]

, 2017
This study aims to uncover how specific bacteria and bile acids (BAs) contribute to steatosis induced by diet and farnesoid X receptor (FXR) deficiency in both genders.
French, Samuel W, Gonzalez, Frank J, Jena, Prasant Kumar, Kalanetra, Karen M, Krishnan, Viswanathan V, Liu, Hui-Xin, Mills, David A, Sheng, Lili, Wan, Yu-Jui Yvonne   +8 more
core   +1 more source

Amyloid β Instigates Cardiac Neurotrophic Signaling Impairment, Driving Alzheimer's Associated Heart Disease

Advanced Science, EarlyView.
This research identified cardiac amyloid pathology, neurotrophic factor depletion, and reduced myocardial nerve function in a transgenic model of cerebral amyloidosis (Tg2576), Aβ‐challenged cardiomyocytes, and in human AD heart tissue. These findings carry significant diagnostic and therapeutic implications, emphasizing the role of neuro‐signaling ...
Andrea Elia, Rebecca Parodi‐Rullan, Rafael Vazquez‐Torres, Ashley Carey, Huaqing Zhao, Sabzali Javadov, Silvia Fossati   +6 more
wiley   +1 more source

Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era

Journal of the Formosan Medical Association, 2010
Data about the clinical manifestations of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (21-OHD) are lacking in Taiwan. Therefore, this study analyzed the clinical features of 21-OHD in Taiwanese children to improve the diagnosis of ...
Cheng-Ting Lee, Yi-Ching Tung, Pei-Hung Hsiao, Jing-Sheng Lee, Wen-Yu Tsai   +4 more
doaj   +1 more source

Unraveling the Morphological and Functional Maturation Mechanisms Underlying Human Neural Development Using iPSCs‐Derived Neuronal Model

Advanced Science, EarlyView.
Using human induced pluripotent stem cells (hiPSCs)‐derived neuronal model, Tian and colleagues reveal that voltage‐gated calcium channels Cav1.2 and Cav1.3, and their mediated calcium ion influx, are essential for early morphogenesis of human neuronal development, while ECEL1 underlies human neuronal functional developmental maturation through CALM3 ...
Yue Tian, Yi‐Chun Ou, Zi‐Xian Zhang, Jie Cai, Si‐Qing Cai, Guo‐Gang Xing   +5 more
wiley   +1 more source

Divergent Regulatory Effects of Jasmonic Acid on Tomato Lycopene Biosynthesis Under Light and Dark Conditions

Advanced Science, EarlyView.
This study reveals the mechanism by which jasmonic acid (JA) regulates lycopene synthesis under light and dark conditions. In light, JA activates SlMYC2, which suppresses SlPIF1a and promotes SlPSY1 expression. In darkness, JA induces the acetyltransferase SlNATA1, which acetylates the dark‐accumulated SlPIF1a, thereby repressing SlPSY1 expression ...
Jiayi Xu, Lingfeng He, Jialong Zhang, Hao Cui, Hongxin Li, Haijun Zhang, Jiaojiao Zhang, Lun Liu, Kunpeng Xu, Yang‐Dong Guo, Na Zhang   +10 more
wiley   +1 more source

CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region

Genetics and Molecular Biology, 2008
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated ...
Tarcísio André Amorim de Carvalho, Izabel Cristina Neves de Souza, France Keiko Nascimento Yoshioka, Milena Coelho Fernandes Caldato, Nilza Nei Torres, Lena Stilianidi Garcia, João Farias Guerreiro   +6 more
doaj   +1 more source

Remission during pregnancy of severe Chronic Hypertension due to 11-ß Hydroxylase Deficiency [PDF]

, 2004
When hypertension is a result of an underlying identifiable abnormality, the latter's early discovery can lead to a timely cure of the hypertension and the prevention of its complications.
Attard, Gerhardt, Cachia, Mario J.
core  

The Regulatory Role of Iron Transporter SLC39A13 in Liver Fibrosis

Advanced Science, EarlyView.
SLC39A13/ZIP13, a newly discovered intracellular iron transporter, delivers iron to the ER/Golgi to catalyze procollagen hydroxylation during collagen maturation. Here, we systematically characterize the cell type‐specific functions of ZIP13 across distinct hepatic cell populations, and identify hepatic stellate cell‐specific ZIP13 as a promising and ...
Shanshan Guo, Yalin Wang, Binyu Lu, Yu Zhang, David M. Frazer, Bing Zhou   +5 more
wiley   +1 more source

Evidence Favoring a Positive Feedback Loop for Physiologic Auto Upregulation of hnRNP-E1 during Prolonged Folate Deficiency in Human Placental Cells [PDF]

, 2017
Background: Previously, we determined that heterogeneous nuclear ribonucleoprotein E1 (hnRNP-E1) functions as an intracellular physiologic sensor of folate deficiency.
Antony, Aśok C., Hansen, Deborah K., Jayaram, Hiremagalur N., Khan, Rehana A., Kusumanchi, Praveen, Stabler, Sally P., Tang, Ying-Sheng, Xiao, Suhong   +7 more
core   +1 more source