Categoría: Articulos
-
Case Report: Whole-exome sequencing revealing a novel PBX1 gene variant in a Chinese family with renal hypoplasia
Background and AimsCongenital Anomalies of the Kidney and Urinary Tract with or without Hearing Loss, Abnormal Ears, or Developmental Delay (CAKUTHED) is an autosomal dominant syndromic form of congenital anomalies of the kidney and urinary tract assoc…
-
Scientists turn protein-making errors in cancer cells into a targeted kill switch
Like every other cell in the human body, cancer cells also produce their own share of proteins for survival. During this production process, cells often encounter a glitch called ribosomal frameshifting. This exceptionally rare event occurs roughly onc…
-
Integrated clinical, biochemical, cardiac imaging, and transcriptional changes under MEK inhibition in complicated Noonan syndrome
European Journal of Human Genetics, Published online: 07 November 2026; doi:10.1038/s41431-026-02260-1Integrated clinical, biochemical, cardiac imaging, and transcriptional changes under MEK inhibition in complicated Noonan syndrome
-
New research identifies biological differences in pancreatic cancer
New research from the University of Cincinnati Cancer Center found biological differences in pancreatic cancer tumors and immune environments, opening the possibility for more personalized treatments for different populations.
-
DNA ‘switch’ uncovers new brake on breast cancer growth
Adelaide University researchers have found a DNA «switch» that helps the body stop the growth of the most common form of breast cancer, providing new insights that could help with future treatments. Up to 80% of breast cancer cases are classified as es…
-
Drug restores kidney cell function in experimental models of rare Lowe syndrome
Over two decades of research into the cellular mechanisms underlying Lowe syndrome have led to the identification of a potential therapeutic strategy for this rare genetic disorder, which affects the eyes, nervous system and kidneys. The findings are d…
-
Genetic variant may increase the risk of pneumonia
Pneumonia is a common and sometimes serious infection that affects 20,000–30,000 people in Sweden every year. Well-known risk factors include advanced age, smoking and underlying medical conditions. In a new study published in eBioMedicine, researchers…
-
Immunofluorescence mapping vs. electron microscopy in epidermolysis bullosa: comparative retrospective study in 84 genetically confirmed patients
Background Objective Methods Results …