Results 111 to 120 of about 44,026 (275)

Pituitary-adrenal axis in Prader Willi syndrome [PDF]

, 2016
Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was
Edgar, Olivia S., Lucas-Herald, Angela K., Shaikh, Mohamad Guftar   +2 more
core   +2 more sources

Zebrafish duox mutations provide a model for human congenital hypothyroidism

Biology Open, 2019
Thyroid dyshormonogenesis is a leading cause of congenital hypothyroidism, a highly prevalent but treatable condition. Thyroid hormone (TH) synthesis is dependent on the formation of reactive oxygen species (ROS).
Kunal Chopra, Shoko Ishibashi, Enrique Amaya   +2 more
doaj   +1 more source

Blood-spot thyrotropin radioimmunoassay in a screening program for congenital hypothyroidism. [PDF]

, 1979
W A Sadler, C P Lynskey
openalex   +1 more source

Glycine N‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism

JIMD Reports, Volume 66, Issue 5, September 2025.
ABSTRACT The enzyme glycine N‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjugation pathway is limited and difficult to determine.
Mona Nourbakhsh, Mohammad Miryounesi, Ali Tale, Parvaneh Karimzadeh, Hossein Sadeghi, Mohammad‐Reza Ghasemi, Nasrin Alipour, Elham Pourbakhtyaran, Nakisa Hooman, Maryam Razzaghy‐Azar, Mitra Nourbakhsh, Lil Klaas, Daniel Schulke, Jörn Oliver Sass   +13 more
wiley   +1 more source

Editorial Introduction: Advancing Pediatric Endocrinology Through Multidimensional Insights

Clinical Endocrinology, EarlyView.
Tony Huynh
wiley   +1 more source

Transforming Growth Factor‐Beta Signaling in Cancer: Therapeutic Implications, Challenges, and Pathways to Progress

MedComm – Oncology, Volume 4, Issue 3, September 2025.
TGF‐β inhibition is emerging as a promising cancer therapy, yet translating laboratory success to bedside implementation has suffered significant setbacks. The associated challenges include adverse drug reactions, inadequate predictive models, and activation of alternative signaling pathways.
Faizah A. Alabi, Izuchukwu F. Okpalanwaka, Adenike Oyegbesan, Ebenezar Okoyeocha, Mariam Oladejo, Sikiru O. Imodoye   +5 more
wiley   +1 more source

Prevalence of Transient and Permanent Congenital Hypothyroidism in Mazandaran Province

Journal of Mazandaran University of Medical Sciences, 2018
Background and purpose: Congenital hypothyroidism (CH) is one of the most common preventable causes of mental disabilities. The present study was conducted to determine the prevalence of permanent and transient congenital hypothyroidism in Mazandaran ...
zahra Beheshti, Rozita Rezaei, Abbas Alipour, Mehrnoosh Kosarian, sussan saatsaz   +4 more
doaj  

Improved prognosis in congenital hypothyroidism treated before three months. Behavior concerns of parents of treated cretins [PDF]

, 1971
Alan H. Klein, Stephanie Meltzer, Frederic M. Kenny, Thomas K. Oliver   +3 more
openalex   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and review

Frontiers in Pediatrics
BackgroundVinblastine is a widely used chemotherapeutic agent for various cancers. We report a case of transient congenital hypothyroidism following maternal exposure to vinblastine during the third trimester of pregnancy and propose possible mechanisms ...
Zubair Amin, Zubair Amin, Win Thu Aung, Yvonne Peng Mei Ng, Yvonne Peng Mei Ng   +4 more
doaj   +1 more source