2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
17 citations
,
August 2012 in “Journal of Medical Genetics” 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.
13 citations
,
January 2022 in “Advances in Dermatology and Allergology” This review discusses the relationship between gut microbiota and alopecia areata, and it does not report new clinical results.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
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.
124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
59 citations
,
June 2023 in “Nature Aging” This study observed that in aged mouse skin, there was an increase in IL-17-expressing T helper cells, γδ T cells, and innate lymphoid cells, and blocking IL-17 signaling reduced skin inflammation and delayed age-related changes, suggesting it as a potential target to mitigate skin aging.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
23 citations
,
June 2006 in “Journal of Investigative Dermatology” Men with baldness have higher levels of specific proteins, suggesting local hormone production may play a role in hair loss.
22 citations
,
January 2009 in “Medical mycology” In this case report, researchers identified Arthroderma vanbreuseghemii as the cause of a familial fungal infection, which was successfully treated with itraconazole and topical terbinafine cream.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
8 citations
,
September 2024 in “BMC Genomics” In this study, researchers found that the novel gene circCFAP20DC enhances the proliferation of goat follicular granulosa cells by activating the RB pathway, facilitating their progression from the G1 to S phase during follicular development.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
5 citations
,
December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
4 citations
,
April 1999 in “Dermatologic Clinics” Androgens, like DHT, affect hair growth and treatments like finasteride may help.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
2 citations
,
June 2021 in “Research Square (Research Square)” This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
1 citations
,
September 2024 in “Scientific Reports” This study observed that bacterial communities on scalp hair collected through non-invasive swabbing showed similar diversity and composition to those obtained by cutting or removing hair, suggesting that swabbing is an effective method for microbiome analysis on hair.
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
September 2025 in “Arthritis Research & Therapy” In this study, researchers found that the compound BMS-470539 induced a senescence-like state in fibroblasts from systemic sclerosis patients, reducing fibrosis-associated markers in vitro and decreasing skin thickness in a mouse model of skin fibrosis, suggesting a novel therapeutic strategy for managing fibroblast-driven diseases.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.