Results 101 to 110 of about 5,557 (240)

Fertility induction associated with improved peripheral reproductive parameters in male Prop1df/dfmice subjected to GH and levothyroxine replacement [PDF]

Archives of Endocrinology and Metabolism
Objective: The aim of this study was to characterize the parameters of reproductive anatomy and pituitary hormone expression levels in ames dwarf mice (Prop1df/df).
Bruna Viscardi Azevedo, Juliana Moreira Marques, Nicholas Trigueiro, Victor Yuji Yariwake, Mariana Matera Veras, Leticia Kaory Tamashiro, Robison Cruz, Luciani R. Silveira de Carvalho   +7 more
doaj   +1 more source

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

BMC Endocrine Disorders, 2023
Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies.
Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda   +9 more
doaj   +1 more source

Is physiological glucocorticoid replacement important in children? [PDF]

, 2017
Cortisol has a distinct circadian rhythm with low concentrations at night, rising in the early hours of the morning, peaking on waking and declining over the day to low concentrations in the evening.
Arlt, Balsalobre, Bancos, Begum, Bleicken, Browne, Charmandari, Charmandari, Charmandari, Crown, de Weerth, de Weerth, Debono, Debono, DeVile, Diabetes, Dunlap, Dunlop, Désir, Finkielstain, Gagliardi, Gan, Ghizzoni, Gilban, Giordano, Guyon, Han, Han, Hansen, Hastings, Hermida, Hindmarsh, Hindmarsh, Iwata, Joanne Blair, Johannsson, Johannsson, John Porter, Jonetz-Mentzel, Khanna, Knutsson, Kupperman, Lashansky, Leproult, Maguire, Maguire, Mallappa, McClung, Miller, Moreira, Moreira, Moreira, Morris, Peacey, Perry, Peters, Price, Quirós, Reutrakul, Richard J Ross, Santiago, Shirtcliff, Simon, Speiser, Spiegel, Steudte-Schmiedgen, Stroud, Tiemensma, Tuli, Van Cauter, Veldhuis, Vyas, Völkl, Wadhwa, Wallace, Whitaker, Whitaker, White, Williams, Wood, Wright, Zimmermann   +81 more
core   +1 more source

Morning Glory Disc Anomaly: Spectrum of Associated Anomalies

Clinical Neuroimaging, Volume 2, Issue 1, 2025.
ABSTRACT Background and Purpose Morning glory disc anomaly (MGDA) is a rare congenital abnormality of the posterior globe with characteristic excavation of the optic disc. Associated abnormalities of the head and neck have been reported in individuals with MGDA as single or small series case reports. The goal of this retrospective study was to identify
Jonathan A. Class, Drew Streicher, Michael V. Kushdilian, Chang Y. Ho, Rupa Radhakrishnan   +4 more
wiley   +1 more source

MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

Developmental Medicine &Child Neurology, Volume 67, Issue 1, Page 35-48, January 2025.
Pathogenic variants in MAGEL2 cause Schaaf–Yang syndrome (SYS). MAGEL2 has diverse physiological functions, particularly in the human hypothalamus. Loss of function likely explains several SYS phenotypes. In addition it has become evident that neomorphic effects of truncated MAGEL2 proteins likely contribute to the severity of this complex ...
Tim Schubert, Christian P. Schaaf
wiley   +1 more source

Prevention of neuromusculoskeletal frailty in slow-aging ames dwarf mice: longitudinal investigation of interaction of longevity genes and caloric restriction. [PDF]

PLoS ONE, 2013
Ames dwarf (Prop1 (df/df) ) mice are remarkably long-lived and exhibit many characteristics of delayed aging and extended healthspan. Caloric restriction (CR) has similar effects on healthspan and lifespan, and causes an extension of longevity in Ames ...
Oge Arum, Zachary Andrew Rasche, Dustin John Rickman, Andrzej Bartke   +3 more
doaj   +1 more source

Deep-learning models improve on community-level diagnosis for common congenital heart disease lesions [PDF]

arXiv, 2018
Prenatal diagnosis of tetralogy of Fallot (TOF) and hypoplastic left heart syndrome (HLHS), two serious congenital heart defects, improves outcomes and can in some cases facilitate in utero interventions. In practice, however, the fetal diagnosis rate for these lesions is only 30-50 percent in community settings. Improving fetal diagnosis of congenital
arxiv  

Congenital anomalies of the optic nerve [PDF]

, 2015
Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually
Amador-Patarroyo, Manuel J., Pérez-Rueda, Mario A., Tellez, Carlos H.   +2 more
core   +1 more source

Disease‐Associated Factors at the Endoplasmic Reticulum–Golgi Interface

Traffic, Volume 26, Issue 1-3, January/March 2025.
The ER–Golgi interface has garnered significant attention due to recent discoveries suggesting potential non‐vesicular transport mechanisms and regulation through liquid‐liquid phase separation. Numerous diseases linked to mutations in proteins located at this interface have been identified, highlighting the importance of comprehensive reviews in this ...
Miharu Maeda, Masashi Arakawa, Kota Saito   +2 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