65 citations
,
March 2017 in “Experimental Dermatology” This review discusses the genetic and biological factors influencing hair curliness, revealing strong links to specific protein variations, and reports no new clinical results.
60 citations
,
April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
30 citations
,
December 1996 in “Journal of Investigative Dermatology”
26 citations
,
September 2020 in “Journal of the European Academy of Dermatology and Venereology” This publication is a letter discussing the association between an androgen receptor genetic variant and COVID-19 disease severity in hospitalized male patients, but it reports no new research results.
20 citations
,
March 2014 in “Molecular Endocrinology” This study suggests that NFIB and STAT5 work together to control cell-specific genetic programs in mammalian tissues, particularly in mammary and hair follicle stem cells.
17 citations
,
December 2020 in “Journal of Genetic Counseling” This review outlines best practices for providing culturally competent care to transgender patients and discusses considerations for assessing disease risk, but reports no new research findings.
16 citations
,
March 2011 in “Dermatologic Therapy” This study suggests that genetic variants in the androgen receptor gene may predict which postmenopausal women with hair loss respond to finasteride therapy.
15 citations
,
June 2020 in “Experimental Dermatology” This review discusses recent genetic findings on hormonal signaling pathways in androgenetic alopecia, reporting no new study results but highlighting the need for further investigation.
15 citations
,
April 2003 in “Journal of Dermatological Science” This study found no significant associations between the polymorphisms of SRD5A1 and SRD5A2 genes and androgenetic alopecia, clinical types of baldness, or response to finasteride in Koreans.
13 citations
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
13 citations
,
June 2024 in “Frontiers in Genetics” 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.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
12 citations
,
January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
11 citations
,
November 2021 in “The Journal of Clinical Endocrinology and Metabolism” This study found that genetic risk factors for PCOS can lead to nonreproductive phenotypes in men, suggesting these effects are independent of ovarian function.
11 citations
,
May 2010 in “Pigment Cell & Melanoma Research” This study reviews the genetic mechanisms behind cat coat patterns, revealing that specific loci determine tabby variations and suggesting these patterns could unravel broader developmental and evolutionary biology insights.
10 citations
,
June 2024 in “Frontiers in Genetics” This study analyzed RNA-seq data from various animal breeds and suggested that similar molecular mechanisms may underlie wool fineness in different sheep breeds. Researchers identified 32 candidate genes related to hair follicle regulation, providing insights for molecular breeding and evolutionary studies.
9 citations
,
June 2023 in “Human Genomics” This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.
8 citations
,
August 2022 in “BMC Veterinary Research” This study found that C57BL/6 mice and Sprague–Dawley rats show distinct distributions of eccrine sweat glands and hair follicles in their volar skin, suggesting these models should be selected according to research focus on skin appendages.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
7 citations
,
September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
7 citations
,
March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
7 citations
,
July 2018 in “Journal of Investigative Dermatology” This article reviews the genetic research on male androgenetic alopecia, highlighting that over 300 associated risk variants have been identified, with unclear mechanisms of action.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
5 citations
,
October 2023 in “Forests” In this study, researchers assessed the genetic diversity of 101 Ginkgo biloba individuals using EST-SSR markers and concluded that there is a high level of genetic diversity in Ginkgo populations, facilitating the construction of a core germplasm collection for breeding purposes.
5 citations
,
May 2023 in “European Journal of Human Genetics” 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.
5 citations
,
September 2012 in “Journal of Investigative Dermatology” This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.
4 citations
,
February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
4 citations
,
January 2023 in “Frontiers in Immunology” In this Mendelian randomization study, shortened leukocyte telomere length was associated with an increased risk of androgenetic alopecia, but no causal relationship was found with alopecia areata.