Results 111 to 120 of about 8,612 (230)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, Volume 99, Issue 5, Page 1287-1302, May 2026.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Age Structure, Sexual Dimorphism, and Ontogenetic Melanism in a Captive Population of the Endangered Freshwater Turtle Mauremys reevesii (Gray 1831)

Ecology and Evolution, Volume 16, Issue 5, May 2026.
Effectively illustrates the sexual size dimorphism in males and females of endangered Mauremys reevesii. ABSTRACT The age structure of animal populations plays a pivotal role in understanding their demographic dynamics and reproductive potential. Although carapace growth ring analysis is widely used to estimate turtle ages, environmental variability ...
Hakyung Kang, Jaeyoung Seo, Ju Hee Bae, Kyo Soung Koo, Yikweon Jang   +4 more
wiley   +1 more source

Identificação de polimorfismos no gene do IGF-I em bovinos (Bos taurus) da raça Crioula Lageana [PDF]

, 2017
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Agrárias. Curso de Agronomia.O gene do IGF-I (Fator I de Crescimento Semelhante à Insulina) é um bom candidato a marcador molecular de bovinos devido a sua relação com ...
Rosa, Vanessa Laus da
core  

Clinical Features of Malignant Ovarian Germ Cell Tumors According to Demographic and Pathologic Characteristics

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Malignant ovarian germ cell tumors (MOGCTs) are aggressive cancers affecting mainly young women, in whom fertility preservation is important. Diagnosis is often delayed because early symptoms are non‐specific, leading to advanced disease or emergency surgery that may limit optimal staging and fertility‐sparing treatment. As
Jila Agah, Elham Navipour, Setareh Akhavan, Somaye Norouzi   +3 more
wiley   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Systematic Review: The Impact of Geographic Location and Socioeconomic Status on Healthcare Utilisation and Clinical Outcomes in Patients With Inflammatory Bowel Disease (IBD) in the Developed World

JCC Plus, Volume 1, Issue 3, May 2026.
ABSTRACT Background Inflammatory bowel diseases (IBD) are a group of chronic inflammatory conditions affecting the gastrointestinal tract, which requires life‐long management. Healthcare inequalities in IBD are a key factor influencing disease outcomes. Aim This review aimed to describe the impact of geographical location (urban vs.
George Tambakis, Lei Lin, Rina Kumar, Jennifer Phillips, Anthony Croft, Graham Radford‐Smith, Gareth J. Walker   +6 more
wiley   +1 more source

Phenotypic relationship of female sexual precocity with production and reproduction traits in beef cattle using multivariate statistical techniques

Italian Journal of Animal Science, 2019
Multivariate statistical techniques were used to characterise the differences between precocious and non-precocious Nellore females regarding the phenotypic expression of various reproductive and productive traits.
Gerardo Alves Fernandes Júnior, Diogo Anastácio Garcia, Bruna Hortolani, Lucia Galvão de Albuquerque   +3 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Dissection of the gene regulatory network underlying sexual maturity divergence in Jining Bairi chickens through integrated RNA-seq and WGCNA analysis

Poultry Science
Sexual maturity is a pivotal reproductive trait in laying hens because it is directly related to egg production. The age at first egg is a definitive indicator of sexual maturity attainment in laying hens. Most Chinese indigenous chicken breeds exhibit a
Jiale Zhang, Xiaoyun Cao, Hongrui Zhang, Hui Tang, Yunliang Jiang, Qingqing Wei, Li Kang   +6 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