Results 81 to 90 of about 3,629,719 (185)

Insights into Laron Syndrome: Unraveling the Molecular Basis, Clinical Manifestations, and Therapeutic Prospects

International Journal of Medical Science and Clinical Research Studies
Laron Syndrome, a rare and intriguing genetic disorder, stands as a testament to the intricate interplay between genetics and endocrinology. This article delves into the comprehensive exploration of Laron Syndrome, elucidating its molecular underpinnings,
Donaldo Emiliano Silva López, Geraldine Nieves Vázquez, Luis Elías Galicia García, Saúl Villaseñor Angulo, Diana Marisol Perales Rivera, Claudia Paola Contreras Sáenz   +5 more
semanticscholar   +1 more source

Keratinocyte‐Associated Biomarkers Reveal Pathogenic Mechanisms in Acne

FASEB BioAdvances, Volume 8, Issue 2, February 2026.
The study workflow integrates scRNA‐seq and bulk RNA‐seq data to characterize acne pathogenesis. Step 1 identifies expanded keratinocyte populations using single‐cell analysis. Step 2 filters candidate genes via WGCNA and differential expression integration.
Sini Cai, Yinjing Lin, Heng Xie, Xian Ao, Qiwei Liu, Lining Huang   +5 more
wiley   +1 more source

Abnormalities of the axial and proximal appendicular skeleton in adults with Laron syndrome (growth hormone insensitivity)

, 2008
To investigate abnormalities in the skeleton (with the exclusion of the skull, cervical spine, hands and feet) in patients with Laron syndrome, who have an inborn growth hormone resistance and congenital insulin-like growth factor-1 (IGF-1) deficiency ...
Kornreich, L, Horev, G, Siegel, Y, Schwarz, M, Laron, Z, Konen, O, Hershkovitz, I   +6 more
core   +1 more source

The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway

Cells, 2021
Endometrial cancer is the most common gynecologic malignancy in Western countries. The insulin-like growth factor-1 (IGF1) axis has an important role in endometrial cancer biology and emerged as a promising therapeutic target in oncology.
Rand Shibel, Rive Sarfstein, Karthik Nagaraj, Lena Lapkina-Gendler, Zvi Laron, Manisha Dixit, Shoshana Yakar, Haim Werner   +7 more
doaj   +1 more source

Unraveling the Metabolic Influence of Olfactory Receptors in Cancer Cells

Sensory Neuroscience, Volume 1, Issue 3, December 2025.
ORs are aberrantly expressed in various tumor types and regulate cancer cell metabolism through nonclassical signaling pathways, including PI3K/Akt, MAPK, and ERK. These receptors influence tumor proliferation, invasion, and immune evasion. Specific OR–ligand interactions offer promising opportunities for targeted cancer therapy and early diagnosis ...
Chengzhilin Li, Xiaochen Gao, Ziheng Liu, Nianlei Zhang, Xue Cao, Wenwen Qi, Chengcheng Liu   +6 more
wiley   +1 more source

HIF‐Mediated Fructose Metabolism and Disease Progression in the Cardiovascular‐Kidney‐Metabolic Syndrome

Comprehensive Physiology, Volume 15, Issue 4, August 2025.
Under normoxic conditions in cardiomyocytes, Hypoxia Inducible Factor‐1 alfa (HIF‐1α) is degraded by Prolyl Hydroxylases and Ketohexokinase‐A (KHK‐A) is expressed. Hypoxia results in stabilization of HIF‐1α with consequent induction of Ketohexokinase‐C (KHK‐C) expression via Splicing Factor 3B1 (SF3B1).
David Mathew, Sean Davidson, Derek Yellon   +2 more
wiley   +1 more source

Antenatal medication management for women with sickle‐cell disease: A systematic review

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Background Improvements in sickle‐cell disease (SCD) treatment have led to an increasing number of individuals surviving to reproductive age. However, pregnancy in women with SCD carries a heightened risk of maternal and fetal complications.
Yaneve N. Fonge, Kelli D. Barbour, Sarah Boudova, Jen Sothornwit, Chetta Ngamjarus, Porjai Pattanittum, Apiwat Jongjakapun, Termtem Waidee, Nampet Jampathong, Pisake Lumbiganon, Beth L. Pineles   +10 more
wiley   +1 more source

Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries

, 2019
Laron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1 ...
Dundar, Ismail, Hwa, Vivian, Camtosun, Emine, Akinci, Aysehan, Karakurt, Cemsit   +4 more
core   +1 more source

Insulin-like growth factor-I raises serum procollagen levels in children and adults with Laron syndrome

, 1996
OBJECTIVE: Recombinant IGF-I is now available for the treatment of GH insensitivity (Laron syndrome). We have determined the effects of IGF-I on soft connective tissue and bone metabolism in a group of patients with this disorder.PATIENTS AND DESIGN ...
Klinger, B, Laron, Z, Jensen, L T, Silbergeld, A   +3 more
core   +1 more source

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report

Clinical Case Reports, Volume 13, Issue 2, February 2025.
ABSTRACT Isolated growth hormone deficiency (IGHD) IA is inherited autosomal recessively and occurs due to GH1 gene deletions. This study emphasizes the importance of clinical diagnosis and molecular examination for detecting novel mutations to prevent misdiagnosis and to consider timely and appropriate management of the current and long‐term ...
Shahab Noorian, Hedieh Soltani, Fatemeh Aghamahdi, Shahram Savad, Mahnaz Seifi Alan   +4 more
wiley   +1 more source