Results 41 to 50 of about 75,245 (306)

Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]

, 2018
: Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni, ARTIOLA, CRISTIANA, CARDUCCI, Carla, CARDUCCI, Claudia, D'AMICI, SIRIO, GIOVANNIELLO, TERESA, Manuela Tolve, PASQUALI, Amelia, PIZZUTI, Antonio, Vincenzo Leuzzi   +9 more
core   +1 more source

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +1 more source

Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]

, 2020
The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
core   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +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

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

21-hydroxylase deficiency and fertility

Medical alphabet, 2020
21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss.
M. M. Amiraslanova, I. V. Kuznetsova
openaire   +2 more sources

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

BMC Endocrine Disorders, 2018
Background Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death.
Helmuth G. Dörr, Hartmut A. Wollmann, Berthold P. Hauffa, Joachim Woelfle, on behalf of the German Society of Pediatric Endocrinology and Diabetology   +4 more
doaj   +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