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This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.

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.

This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.

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 found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.

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 concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.

This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

This study identified a mutant in Arabidopsis with shorter root hairs due to early growth cessation, implicating the IRE gene in regulating root hair growth duration.

This study found that a mutation in the Tmprss6 gene disrupts hepcidin regulation, leading to iron deficiency and alopecia in mice, highlighting TMPRSS6's vital role in iron absorption.

This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.

In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

This study found that selective inactivation of ribonucleotide excision repair in mouse epidermis led to spontaneous DNA damage, skin inflammation, and the development of squamous cell carcinoma, suggesting potential implications for cancer development in humans.

This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.

This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.

This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.

This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.