Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

This study identified a thiazolidine dione derivative as a potential inhibitor of 15-PGDH that may enhance prostaglandin activity in hair follicles, suggesting its use to support hair regrowth treatments.

Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.

This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.

This study found that ablation of Tet2/Tet3 genes in skin epithelial cells altered hair shape and length, leading to hair loss, by affecting chromatin accessibility and gene expression related to hair follicle regulation.

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.

This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This study found that chi-miR-30b-5p was more expressed in the telogen phase than in the anagen phase and inhibited dermal papilla cell proliferation by targeting CaMKIIδ.

This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

CCCA affects Black men too, with a genetic link found in the PADI3 gene.

This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.

This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.

In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.

This study suggests that CSLD1 is key to nitrogen-dependent root hair elongation and regulation of AMT1;2 expression in rice roots.

This study reported that the anti-γc antibody hC2 restored hair follicle homeostasis and suppressed hair loss in an AA-like mouse model by inhibiting autoreactive T-cell activity, suggesting that hC2 may offer a safer and more effective treatment for alopecia areata compared to current Jak inhibitors.

This study developed a culture method to expand and differentiate primary mammary basal cells, identifying key transcription factors like EGR1 and ELF3 that influence Claudin expression and actin organization, offering insights into epithelial cell biology and potential applications in related research fields.

This study found that decorin treatment significantly enhances dermal papilla cell proliferation, promoting hair follicle growth by influencing the SMAD3/TGF-β signaling pathway through exosomal miR-129–2-3p, which may aid in novel strategies for treating hair disorders and enhancing wool production.