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In this study, human dermal papilla cells exposed to wasabi leaf extract showed changes in cytokine-related gene expression, which the authors suggest could help clarify the biological effects of wasabi.

This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.

This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.

This study examined the molecular communication in psoriasis cells, highlighting unique immune cell interactions and identifying new features of the hair follicle cell-psoriasis axis. It suggests the potential for targeted therapies at the single-cell level to improve psoriasis treatment.

This study found that HDAC6 plays a crucial role in regulating primordial follicle activation, with its overexpression delaying activation and preserving fertility by reducing NGF levels.

This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.

This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.

In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

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 case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.

This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.

This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.