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This chapter reviews current and future strategies for identifying ligands and functions of orphan G protein-coupled receptors, but it reports no new experimental results.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

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

This study proposes reclassifying PCOS into two distinct phenotypes based on androgen levels and suggests androgen supplementation may overcome IVF resistance in one group with advancing age.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

This review explores the potential of self-amplifying RNA technology for protein replacement therapy in various health disorders but reports no new experimental results, indicating challenges remain for clinical approval.

This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.

This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.

This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.

In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.

In this study, a deep neural network model called regX was developed to prioritize driver regulators for cell state transitions by incorporating gene-level regulation and interactions, showing potential therapeutic targets in type 2 diabetes and hair follicle development when applied to single-cell multi-omics data.

This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.

This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.

Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.

This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.