42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
41 citations
,
June 2010 in “Journal of Investigative Dermatology” This study suggests that new cells are incorporated into the dermal papilla during the early anagen phase of the hair cycle, which may influence hair growth consistency and follicle size changes.
41 citations
,
August 2007 in “European Journal of Gastroenterology & Hepatology” This case report documents a reversible instance of complete body hair loss (alopecia universalis) in a patient undergoing chronic hepatitis C treatment with pegylated interferon alpha-2b and ribavirin, with hair regrowth observed within three months after therapy completion.
38 citations
,
February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
36 citations
,
October 2016 in “Bone” This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
28 citations
,
November 2018 in “Journal of structural biology” This study found statistically significant patterns in hair morphology and ultrastructure linked to biogeographic ancestry among European, African, and East Asian populations.
27 citations
,
April 2005 in “Journal of Chemotherapy” This study reported two cases of alopecia universalis triggered by PEG-interferon and ribavirin therapy for chronic hepatitis C, with hair regrowth observed after therapy completion or withdrawal.
26 citations
,
June 2005 in “Journal of Molecular Endocrinology” This study found that both finasteride and dutasteride act as slow, time-dependent inhibitors of steroid 5α-reductase type II, with dutasteride being more efficient, influenced by the enzyme's genetic variants.
25 citations
,
September 2015 in “Clinical Endocrinology” This study found that diagnosing nonclassic congenital adrenal hyperplasia in women based solely on serum 17OHP measurements can lead to false positives, suggesting the need for urinary steroid profiles and genetic testing for confirmation.
21 citations
,
January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
21 citations
,
November 2017 in “Livestock science” This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.
18 citations
,
August 2012 in “Journal of The American Academy of Dermatology” This report describes a case where a sex reassignment patient on estrogen therapy experienced complete hair regrowth on a previously fully alopecic scalp.
18 citations
,
February 2012 in “Experimental Dermatology” This study found no significant association between selected gene variants and female pattern hair loss, suggesting these genes might not be involved in its development.
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
,
July 2016 in “Urologic Clinics of North America” This study found that combining 5-alpha reductase inhibitors with alpha-blockers provided the best symptomatic relief and reduced the risk of clinical progression for BPH, while PDE5 inhibitors could offset sexual side effects.
13 citations
,
January 2019 in “Endocrine journal” This study found that transdermal DHT treatment increased penile length in boys with 5α-reductase type 2 deficiency, but post-pubertal growth was limited and carried potential prostate complications.
13 citations
,
October 2011 in “Clinical and Experimental Dermatology” This study found no improvement in male-pattern hair loss after six months of using laser hair-comb therapy in two men.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
10 citations
,
April 2020 in “Clinics in Dermatology” This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.
9 citations
,
November 2012 in “Hepatology Research” This case study reports the first instance of irreversible alopecia universalis occurring during pegylated interferon-ribavirin therapy in a man with hepatitis C infection, without evidence of immunological or thyroid disorders.
6 citations
,
October 2016 in “Journal of Chemotherapy” This case report describes a rare instance of alopecia universalis occurring eight weeks after discontinuing pegylated interferon α and ribavirin therapy, highlighting the need for awareness among healthcare providers.
5 citations
,
March 2019 in “Facial Plastic Surgery Clinics of North America” In this article, the authors reviewed essential terminology and recommendations for creating a welcoming healthcare environment for transgender patients and providing gender-affirming therapy, emphasizing the unique health needs and disparities faced by this population.
5 citations
,
January 2017 in “Endocrinology” This chapter reviews the biosynthesis, mechanism of action, and therapeutic effects of testosterone and related androgens, but reports no new research findings.
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
3 citations
,
October 2015 in “International Journal of Dermatology” This study found that the vertex/occiput ratios of hair density and diameter in prepubertal children may serve as reference values to identify androgenetic alopecia with high probability.
2 citations
,
June 2021 in “Immunopathologia Persa” This study observed that among Iranian patients with rheumatoid arthritis, methotrexate treatment was discontinued or reduced in nearly half of the cases due to side effects such as nausea, flu-like symptoms, hepatotoxicity, and hair loss, with hepatotoxicity linked to higher doses and longer treatment duration.
2 citations
,
September 2020 in “Schweizer Archiv für Tierheilkunde” This study found that Swiss cattle exhibiting rat-tail syndrome are heterozygous for genetic variants linked to pigmentation and color dilution, likely due to Holstein introgression in the Simmental breed.
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.
2 citations
,
March 2015 in “Hepatitis Monthly” This case report identified dystrophic anagen effluvium as a previously unreported dermatological side effect of PEG-INF-α-2a/RBV combination therapy in a patient with chronic hepatitis C infection.