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This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.

This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.

This study found that mutations in the hairless gene disrupt normal hair follicle development by impairing Wnt/β-catenin signaling, affecting hair keratinocyte differentiation in both mice and humans.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.

This study reported that gain-of-function mutations in TRPV3 lead to hair loss in mice by disrupting inner root sheath keratinocyte differentiation, ultimately causing follicular keratinocyte stem cell exhaustion and permanent follicle disruption.

This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.

This study found that Gsdma3 mutation in mice allows hair follicles to bypass a typical telogen phase and directly enter the anagen phase, suggesting Gsdma3's role in hair cycle transitions by regulating Wnt signaling.

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.

This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.

This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.

This article reviews the genetic associations between MTHFR mutations, homocysteine levels, and autoimmune diseases, without reporting new experimental results.

Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.

This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.

This study found that despite carrying an activating Hras mutation, hair follicle stem cells integrate into normal skin without causing tumors, unlike similar mutations in the epidermis, suggesting unique tumor-suppressing mechanisms in hair follicles.

In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.

This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.

This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.

This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.

This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.

This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.

This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.

This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.

This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.

This study found that the cell of origin in mouse skin affects melanoma phenotype and response to therapies, despite the presence of the same genetic mutations.

This study suggests that unliganded vitamin D receptors in mice may cause more severe skeletal and mineral ion defects than VDR-null conditions, and vitamin D analogues may restore function in specific VDR mutations.