Results 161 to 170 of about 1,980,181 (285)

mTOR blockade prevents progressive proteinuria but induces hyperglycaemia in obese Dahl salt‐sensitive rats before puberty

Experimental Physiology, EarlyView.
Abstract Previous studies have demonstrated that mammalian target of rapamycin (mTOR) activity is significantly increased in the kidneys of Dahl salt‐sensitive (SS) rats during the development of renal injury. Therefore, in the present study we examined whether blockade of mTOR with rapamycin inhibits renal injury in Dahl salt‐sensitive leptin receptor
Sautan Mandal, Andrea K. Brown, Ubong S. Ekperikpe, Anukool A. Bhopatkar, Krystle M. Hughes, Tyler D. Johnson, Jonita S. Cooper, Konnor T. Wilbert, Denise C. Cornelius, Jan M. Williams   +9 more
wiley   +1 more source

Challenge faced in diagnosis and treatment of congenital hypothyroidism presenting with isosexual puberty and bilateral ovarian mass in low and middle income country: a case report. [PDF]

BMC Endocr Disord
Ganta AG, Desta WT.
europepmc   +1 more source

Evaluation of metabolism‐related molecules in rat model of autism spectrum disorders

Experimental Physiology, EarlyView.
Abstract Autism spectrum disorders (ASD) are neurodevelopmental pathologies. Investigating both sexes is crucial for understanding sex‐specific manifestations of ASD. This study aims to examine ASD‐like behaviours and metabolic alterations in male and female rats prenatally exposed to valproic acid (VPA).
Süeda Tunçak, Ayşen Çakır, Bülent Gören, Nevzat Kahveci   +3 more
wiley   +1 more source

Gonadal Function and Reproductive Health Challenges in Triple a Syndrome: A Narrative Review. [PDF]

Medicina (Kaunas)
Gheorghe-Milea A, Georgescu CE.
europepmc   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 569-578, March 2026.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

<i>SOX10</i> Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases. [PDF]

JCEM Case Rep
Yang Y, Zhang W, Zheng S, Jiang Y, Ye L, Sun S.   +5 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 579-591, March 2026.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Activity Changes of the Hypothalamus-Pituitary Hormonal Axis in Peripubertal Female Rats. [PDF]

Dev Reprod
Jeon EY, Lee SH.
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Boys with constitutional delay of growth and puberty developed spontaneous puberty and reached standard adult height without pharmacological therapy. [PDF]

J Pediatr (Rio J)
Luciano TM, Stecchini MF, Antonini SRR.
europepmc   +1 more source