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This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.

This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.

This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.

In this case study, researchers documented a Chinese boy with hair color changing to red and identified MC1R genetic mutations as the cause, rather than zinc deficiency, enhancing our understanding of hair heterochromia due to genetic factors.

This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

This case report describes a rare aggressive variant of squamous cell carcinoma on the scalp of a non-immunosuppressed older male, highlighting its high biological risk for metastasis and poor outcomes.

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.

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.

This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.

This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.

In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

This study found that the RpoN/RpoS pathway regulates gene expression in Borrelia burgdorferi, influencing its ability to persist in mammals and adapt to different hosts.

In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.

This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

Deleting Rac1 in the skin depletes stem cells and damages hair follicles.

This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.

This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.

This study found that BMP receptor IA is crucial for hair progenitor cell differentiation in mice, and its sequential inhibition and activation are necessary to generate a functioning hair shaft.