Results 91 to 100 of about 4,807 (209)

Expression of gastrin-releasing peptide by excitatory interneurons in the mouse superficial dorsal horn [PDF]

open access: yes, 2014
Background: Gastrin-releasing peptide (GRP) and its receptor have been shown to play an important role in the sensation of itch. However, although GRP immunoreactivity has been detected in the spinal dorsal horn, there is debate about whether this ...
Gutierrez-Mecinas, Maria   +2 more
core   +1 more source

The Life of a Kidney Podocyte

open access: yesActa Physiologica, Volume 241, Issue 8, August 2025.
ABSTRACT Aim Podocytes, highly specialized epithelial cells located in the glomerulus of the kidney, are essential to the filtration barrier that ensures separation of blood and urine. These cells exhibit a unique architecture, characterized by an intricate network of foot processes interconnected by slit diaphragms, which serve as a critical selective
Desiree Loreth   +2 more
wiley   +1 more source

Early dorsomedial tissue interactions regulate gyrification of distal neocortex

open access: yesNature Communications, 2019
The contribution of long-range signaling to cortical gyrification remains poorly understood. In this study, authors demonstrate that the combined genetic loss of transcription factors Lmx1a and Lmx1b, expressed in the telencephalic dorsal midline ...
Victor V. Chizhikov   +8 more
doaj   +1 more source

α‐Synuclein Pathology Spreads in a Midbrain–Hindbrain Assembloid Model

open access: yesAdvanced Science, Volume 12, Issue 20, May 29, 2025.
A novel midbrain–hindbrain assembloid model demonstrates the spread of α‐synuclein pathology, a hallmark of Parkinson's disease, mimicking Braak's hypothesis. This model reveals how pathology propagates from the hindbrain to the midbrain, inducing synaptic changes and early signs of neuronal vulnerability. It offers an innovative platform for exploring
Gemma Gomez‐Giro   +14 more
wiley   +1 more source

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

open access: yesNature Communications, 2018
Primary open-angle glaucoma (POAG) leads to progressive vision loss. Here, Choquet et al. perform genome-wide association analysis for POAG in a multi-ethnic cohort, identify a total of nine novel genetic loci and show relevant function of FMNL2 and ...
Hélène Choquet   +15 more
doaj   +1 more source

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

open access: yesActa Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang   +5 more
wiley   +1 more source

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

open access: yes, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D.   +10 more
core   +2 more sources

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence

open access: yesAdvanced Science, Volume 12, Issue 10, March 13, 2025.
Patellar dysplasia may cause patellar dislocation and osteoarthritis (OA). A novel ABCA6 mutation in a four ‐ generation family is identified. ABCA6 is related to patellar dysplasia and OA progression. Its downregulation correlates with OA onset. ABCA6 regulates chondrogenesis and inhibits joint degeneration via orchestrated cholesterol efflux and ...
Yi Wang   +6 more
wiley   +1 more source

Miscellanea. Könyvismertetés [PDF]

open access: yes, 2015
Könyvismertetés. J. R.Nunley, E. V. Lerma (Eds.): Dermatological manifestations of kidney disease Springer-Verlag New York, 2015 267 oldal ISBN 978-1-4939-2394-
Schneider, Imre
core   +1 more source

Comparative Analysis of Runs of Homozygosity Islands in Indigenous and Commercial Chickens Revealed Candidate Loci for Disease Resistance and Production Traits

open access: yesVeterinary Medicine and Science, Volume 11, Issue 1, January 2025.
There are distinct genetic backgrounds among different chicken populations, with commercial breeds showing a higher number of runs of homozygosity compared to indigenous chickens and their wild ancestors. Indigenous chicken ecotypes have runs of homozygosity islands associated with genetic adaptations, including genes related to disease resistance ...
Elaheh Rostamzadeh Mahdabi   +3 more
wiley   +1 more source

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