Results 11 to 20 of about 1,435 (174)

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. [PDF]

open access: yesJ Eur Acad Dermatol Venereol, 2022
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper ...
Vona B   +19 more
europepmc   +3 more sources

Piebaldism

open access: yes
Citation: 'piebaldism' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11091 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Shah M, Patton E, Zedek D.
europepmc   +3 more sources

Aberrant Pigmentation in a Schooling Cownose Ray (<i>Rhinoptera bonasus</i>) in Chesapeake Bay, Virginia, USA. [PDF]

open access: yesEcol Evol
We report a rare case of aberrant pigmentation in a cownose ray (Rhinoptera bonasus) observed schooling naturally within Chesapeake Bay, Virginia. Drone and in‐water imagery revealed a piebald‐like pattern without any disruption to coordinated group behavior, providing the first in situ evidence that pigmentation anomalies in this species do not ...
Bennett-Smith MF   +4 more
europepmc   +2 more sources

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations. [PDF]

open access: yesJ Dermatol
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Okamura K, Suzuki T.
europepmc   +2 more sources

Piebaldism [PDF]

open access: yesThe Journal of Dermatology, 2012
AbstractPiebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. It is caused by a loss‐of‐function mutation in the KIT gene.
Naoki, Oiso   +3 more
  +6 more sources

Colour Confusion: Reviewing Ambiguities in the Identification and Classification of Chromatophore Deficiencies Among Amphibians. [PDF]

open access: yesEcol Evol
The colour of amphibian skin and eyes is the result of light interacting with multiple chromatophores (xanthophores, iridophores and melanophores), leading to challenges when trying to identify which of these cells are involved in colour abnormalities.
Gould J.
europepmc   +2 more sources

Piebald Camels [PDF]

open access: yesPastoralism, 2017
Animal breeds are the diverse outcome of the thousands-year-long process of livestock domestication. Many of these breeds are piebald, resulting from the artificial selection by pastoralists of animals bearing a genetic condition known as leucism, and selected for their productive, behavioural, or aesthetical traits.
Gabriele Volpato   +2 more
openaire   +3 more sources

First record of a white rough-toothed dolphin (Steno bredanensis) off West Africa including notes on rough-toothed dolphin surface behaviour [PDF]

open access: yes, 2010
In June 2009, a white rough-toothed dolphin (Steno bredanensis) calf was photographed in a group of at least 50 dolphins in the southern Gulf of Guinea, 95 nauticol miles off the Gabon coast (01°45'S 007°29'E), West Africa. Reports of unusually pigmented
Boer, M.N., de
core   +6 more sources

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