Results 211 to 220 of about 35,415 (321)

A Dominant Mutation in G<sub>α</sub>s-Protein Increases Hair Pigmentation. [PDF]

open access: yesPigment Cell Melanoma Res
Goff PS   +8 more
europepmc   +1 more source

Adaptations of the Vertebrate Retina to Low‐Light Conditions: A Review

open access: yesAnatomia, Histologia, Embryologia, Volume 54, Issue 4, July 2025.
ABSTRACT Vision is a critical sensory modality in vertebrates, enabling diverse adaptations to environmental challenges. This review explores the remarkable adaptations of vertebrate eyes to low‐light environments, such as nocturnal habitats, deep‐sea ecosystems and subterranean niches.
R. Cobo   +3 more
wiley   +1 more source

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family

open access: yesClinical Genetics, Volume 108, Issue 1, Page 102-106, July 2025.
Biallelic PCSK1 loss‐of‐function mutations cause proprotein convertase 1/3 (PC1/3) deficiency, a polyendocrinopathy; a total of 36 patients were reported. The first deep intronic PCSK1 variant, (NM_000439.5):c.1196+2681T>A, was found to segregate with the disease in a consanguineous family, and is shown together with 32 reported mutations.
Leah M. Huber   +6 more
wiley   +1 more source

Role of single‐nucleotide polymorphism microarray in the classification of BAP1‐inactivated melanocytic tumours

open access: yesHistopathology, Volume 87, Issue 1, Page 110-129, July 2025.
Here we report the features of 24 BAP1‐inactivated melanocytic tumours including 19 BAP1‐inactivated melanocytomas (BIMs) and five BAP1‐inactivated melanomas. BIMs have a favourable prognosis, even those with multiple copy number aberrations (CNAs).
Joseph S. Durgin   +9 more
wiley   +1 more source

Malignant Mixed Irido‐Melanophoroma in a Betta splendens with Concurrent Mycobacterium chelonae Isolation—A Case Report

open access: yesJournal of Fish Diseases, Volume 48, Issue 7, July 2025.
ABSTRACT A 10‐month‐old intact male blue Siamese fighting fish (Betta splendens) was presented to the Purdue University Small Animal Hospital with multiple bilateral masses on the caudal flank. Comprehensive evaluation using impression cytology, histopathology and transmission electron microscopy (TEM) revealed a tumour composed of a mixed‐cell ...
Zi An Yu   +2 more
wiley   +1 more source

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