Results 61 to 70 of about 4,797 (115)
F1000Research, 2014 Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA. However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.
Mickaila Johnston +3 more
doaj +1 more source
Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2
Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Naomi Baba +11 more
wiley +1 more source
Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome
Pediatric Dermatology, Volume 43, Issue 3, Page 706-710, May/June 2026.ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet +4 more
wiley +1 more source
Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, Volume 13, Issue 22, 17 April 2026.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
Oculocutaneous albinism: an African perspective
British and Irish Orthoptic Journal, 2014 Aim: To describe the genetics behind oculocutaneous albinism (OCA), and explore OCA in an African context in terms of the effects on the health and education of individuals with OCA.
Geraldine R. Mcbride
doaj +1 more source
A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle
Animal Genetics, Volume 57, Issue 3, June 2026.
Katie L. M. Eager +5 more
wiley +1 more source
Rare Germline Variants in CDKN2A‐Negative Children and Adolescents With Cutaneous Melanoma
Pigment Cell &Melanoma Research, Volume 39, Issue 2, March 2026.Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Peter A. Johansson +10 more
wiley +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.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 ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Congenital Anomalies, Volume 66, Issue 1, January/December 2026.ABSTRACT Teratology, the study of congenital anomalies, has developed from a descriptive discipline into a mechanistic science focused on the proximate causes of developmental defects, meaning how such anomalies arise during development. However, a comprehensive understanding requires not only this mechanistic insight but also an evolutionary ...
Tetsuo Kon
wiley +1 more source