20 citations
,
January 2017 in “Genetica” This study suggests that the methylation degree of HOXC8 exon 1 in the hair follicle may influence cashmere fiber growth in Liaoning cashmere goats.
12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
32 citations
,
November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
1 citations
,
August 2024 in “Animals” This study suggests that variations in α-keratin proteins influence the structure and characteristics of wool fibers, indicating that keratin genes could serve as useful markers for identifying different wool traits.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
7 citations
,
August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
14 citations
,
October 2021 in “Dermatology and Therapy” This study found that photoexposure significantly increased the gene expression of altered elastin, MMP12, and LOX, as well as the protein expression of tropoelastin and fibrillin-1, in skin models.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
2 citations
,
September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
September 2021 in “International Journal of Biomedicine” This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.
January 2017 in “Journal of Chemical Biological and Physical Sciences” This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
In this study, researchers used transcriptome sequencing to identify 1543 differentially expressed genes between cashmere and normal goats, implicating several signaling pathways and key regulators in the distinct gene expression profiles linked to cashmere fiber production, which advances understanding of cashmere goat genetics.
27 citations
,
January 2012 in “Current Topics in Microbiology and Immunology” This study found similarities in the regeneration processes of MRL mouse ears and axolotl limbs, involving G2 cell cycle arrest and nerve-dependent mitosis, but the role of p21 in axolotl limb regeneration remains uncertain.
24 citations
,
August 2019 in “Journal of the American Academy of Dermatology” Teledermatology reduces unnecessary in-person visits and improves care.
5 citations
,
January 2016 in “Genetics and molecular research” In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.
3 citations
,
January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
1 citations
,
January 2022 in “Oxidative Medicine and Cellular Longevity” This study found that hair follicle-derived mesenchymal stem cells can alleviate pyroptosis and improve ulcerative colitis symptoms in mice, suggesting potential new treatments for the condition.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
1 citations
,
January 2019 in “British Poultry Science” This study found that specific genes related to vascular endothelial growth factors are critical for feather maturity in certain chicken breeds, identifying key genetic markers that could enhance breeding efficiency.
February 2026 in “Frontiers in Medicine” In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
July 2025 in “Zagazig University Medical Journal” This review reported that exosomes have significant potential in dermatology for use as diagnostic markers and therapeutic tools, with implications for treating conditions like inflammatory skin diseases, skin aging, wound healing, and hair restoration.
November 2023 in “Experimental Dermatology” In this study, researchers found that exosomes derived from dermal sheath cup cells (Exo DSCCs) improved proliferation, viability, and migration while reducing apoptosis in senescent dermal papilla cells, also enhancing hair follicle reconstruction and suggesting a potential strategy for combating senile alopecia.