research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
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research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Functional mapping of the mouse hairless gene promoter region
Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
research Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Repurposing of Drugs as Novel Influenza Inhibitors From Clinical Gene Expression Infection Signatures
A blood pressure drug, diltiazem, may also help treat influenza.
research Alopezien und Hypotrichosen im Kindesalter
Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Visualising Androgen Receptor Activity in Male and Female Mice
Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
research Botryococcus terribilis Ethanol Extract Exerts Anti-inflammatory Effects on Murine RAW264 Cells
Botryococcus terribilis Ethanol Extract may reduce inflammation by changing gene expression in cells.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Large-Scale, Multicenter, Prospective Registry Study of Ripretinib in Advanced GIST: A Real-World Study from China
Ripretinib is effective and safe for treating advanced GIST in Chinese patients, particularly for non-gastric GISTs.
research Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.