research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
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research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Electron microscopic and autoradiographic study of S35-L-cystine incorporation in mouse hair follicles
Mice hair follicles take in the amino acid cystine.
research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research <p class="MsoNormal" style="margin-bottom: 12.0pt; text-align: left; mso-line-height-alt: 14.0pt; layout-grid-mode: char; mso-layout-grid-align: none;" align="left">Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Knockout of the ING5 epigenetic regulator confirms roles in stem cell maintenance and tumor suppression in vivo
ING5 is crucial for stem cell maintenance and preventing certain cancers.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: review.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele
A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
research Discrimination of Dysplastic Nevi from Common Melanocytic Nevi by Cellular and Molecular Criteria
Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
Improving CRISPR/Cas systems can make gene editing more efficient and precise.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.