About 1,435 results

ALLMedicine™ Albinism Center

Research & Reviews  528 results

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the ...
Human Genetics; Frohne A, Koenighofer M et. al.

Nov 30th, 2022 - Loss-of-function variants in AP3D1 have been linked to Hermansky-Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abno...

Recent discovery of tyrosinase inhibitors in traditional Chinese medicines and screenin...
Journal of Ethnopharmacology; Li J, Li C et. al.

Nov 22nd, 2022 - Tyrosinase, the key rate-limiting enzyme for melanogenesis, is one of the main targets for skin senescence and some pigmented skin diseases, such as albinism and melanoma. Tyrosinase inhibitors are capable of reducing melanin generation and deposi...

Bilateral Macular Vortex Veins in Oculocutaneous Albinism.
JAMA Ophthalmology; Lobo S, Pradeep N et. al.

Nov 18th, 2022 - Bilateral Macular Vortex Veins in Oculocutaneous Albinism.|2022|Lobo S,Pradeep N,Rajendran A,|complications,diagnosis,

CyclinD2-mediated regulation of neurogenic output from the retinal ciliary margin is pe...
Neuron Slavi N, Balasubramanian R et. al.

Nov 10th, 2022 - In albinism, aberrations in the ipsi-/contralateral retinal ganglion cell (RGC) ratio compromise the functional integrity of the binocular circuit. Here, we focus on the mouse ciliary margin zone (CMZ), a neurogenic niche at the embryonic peripher...

Overview of familial syndromes with increased skin malignancies.
Archives of Dermatological Research; Juan HY, Zhou AE et. al.

Nov 8th, 2022 - The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte carcinomas include basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Multiple familial syndrome...

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Clinicaltrials.gov  18 results

Study of Chediak-Higashi Syndrome

Oct 14th, 2022 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Oct 13th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Cell Collection to Study Eye Diseases

Oct 12th, 2022 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...

Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population

Jul 21st, 2022 - Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes. Ophthalmological manifestations are a constant feature of this disease. Albinism is believed...

NGS Panel of Incomplete Forms of Ocular Albinism

Aug 30th, 2021 - Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopi...

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News  18 results

Researchers Pinpoint Causes of Foveal Hypoplasia

Apr 14th, 2022 - Newly published insights into the causes of foveal hypoplasia may allow clinicians to make quicker and more accurate diagnoses of the underlying conditions, in some cases preventing complications. Using genetic tests and optical coherence tomograp...

Updates and Advances in Basal Cell Carcinoma

Dec 18th, 2020 - Although basal cell carcinoma (BCC) generally has a good prognosis, improving tolerance to targeted Hedgehog (HH) inhibitors and optimizing second-line treatment with immune checkpoint inhibitors are important for the small subset of patients who ...

Albinism awareness goes global in dermatologists’ nonprofit work
Kari Oakes

Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.

Albinism awareness goes global in dermatologists’ nonprofit work
Kari Oakes

Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.

Four Ocular Abnormalities Not to Overlook in Children

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

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Patient Education  10 results see all →