Results 41 to 50 of about 3,484 (175)

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

Sector Classification of Unerupted Maxillary Canines: A Deep Learning‐Based Automated Framework Using Panoramic Radiographs

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Objectives To develop a deep learning‐based framework to automate sector classification of unerupted maxillary canines (UMCs), assessing its accuracy and reliability compared to human ones. Material and Methods One thousand five hundred twenty‐eight UMCs from digital panoramic radiographs (PRs) were selected using data from the Dental ...
Marzio Galdi, Davide Cannatà, Flavia Celentano, Luigia Rizzo, Domenico Rossi, Tecla Bocchino, Genoveffa Tortora, Stefano Martina   +7 more
wiley   +1 more source

Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature

Radiology Case Reports, 2018
Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its ...
Atif Nawaz, MBBS, FCPS-I, FRCR-I, Muhammad Azeemuddin, MBBS,MCPS,FCPS, Jehanzeb Shahid, MBBS,FCPS-I   +2 more
doaj   +1 more source

Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders

Andrology, Volume 14, Issue 4, Page 1002-1016, May 2026.
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret, Aaran H. Patel, Elisabeth Daniels, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism

Annals of Hepatology, 2007
Background: Congenital hypopituitarism is an uncommon cause of neonatal cholestasis. Little is known about the effect of anterior pituitary hormone on hepatic functions.Methods: A retrospective review of the medical charts of eight infants with ...
Wikrom Karnsakul;, Pairunyar Sawathiparnich;, Saroj Nimkarn;, Supawadee Likitmaskul;, Jeerunda Santiprabhob;, Prapun Aanpreung   +5 more
doaj   +1 more source

Non‐Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Non‐syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools.
Pui Ling Thong, Nurfirdaus Musa, Nurul Husna Mohd Dani, Zurina Zainuddin   +3 more
wiley   +1 more source

[Congenital hypopituitarism: report of 23 cases].

Revista medica de Chile, 2009
Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of this condition is important to prevent impairment of cognitive function, poor growth and alterations in metabolic profile in these patients.To report
Juan Javier, Lammoglia, Francisca, Eyzaguirre, Nancy, Unanue, Rossana, Román, Ethel, Codner, Fernando, Cassorla, Verónica, Mericq   +6 more
openaire   +2 more sources

Post‑Marketing Surveillance of the Safety and Effectiveness of Emicizumab in Japanese Patients With Congenital Haemophilia A With Inhibitors

Haemophilia, Volume 32, Issue 1, Page 135-142, January/February 2026.
ABSTRACT Introduction The bispecific monoclonal antibody emicizumab was approved for prophylactic treatment of congenital haemophilia A (HA) in Japan in 2018. Aim To monitor long‐term safety and effectiveness of emicizumab, including appropriate concomitant use of bypassing agents (BPAs), in Japanese patients with congenital HA with inhibitors who ...
Midori Shima, Katsuyuki Fukutake, Masanori Matsumoto, Yoshihiko Sugimura, Chiaki Sugita, Lyu Ji, Mika Kawano, Tadashi Matsushita   +7 more
wiley   +1 more source

Genetic causes of hypopituitarism

Archives of Medical Science, 2019
Hypopituitarism in neonates is rare, but has life-threatening complications if untreated. This review describes the features of hypopituitarism and the evidence for which infants in whom a genetic cause should be suspected.
Katherine Parkin, Ritika Kapoor, Ravindra Bhat, Anne Greenough   +3 more
doaj   +1 more source