May 2025 in “The Journal of Rheumatology” This case report highlights a rare instance of diffuse alveolar hemorrhage in a patient with catastrophic antiphospholipid syndrome, emphasizing the importance of early recognition and multidisciplinary management.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
12 citations
,
December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
1 citations
,
January 1979 in “International Journal of Dermatology” This article reviews the use of anti-androgens, particularly cyproterone acetate, for managing hirsutism, but does not provide new clinical results.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.
7 citations
,
February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
April 2026 in “The Breast” This study found that both scalp cooling systems and chemical cooling caps effectively reduced chemotherapy-induced alopecia in early breast cancer patients, with scalp cooling showing better early efficacy but chemical cooling providing greater psychological and quality of life benefits.
16 citations
,
January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics” This study presents computational modeling and experimental analysis of the HGT protein KAP8.1, identifying key structural features that may influence hair's response to environmental conditions.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
6 citations
,
May 2021 in “Stem Cell Reviews and Reports” This study identified and characterized progenitor cells from equine feet that may play a role in the pathogenesis and recovery of laminitis, suggesting potential therapeutic targets for treatment.
1 citations
,
December 1970 in “European journal of endocrinology” This study reports experience treating 140 women with hirsutism and other virilism signs using cyproterone acetate and ethinyl estradiol, focusing on those treated for over five months.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
1 citations
,
August 1983 in “PubMed” This study reported that VCP combination chemotherapy achieved a complete response in 53% of advanced non-Hodgkin's lymphoma patients, although more intensive treatment may be needed for improved outcomes.
August 2022 in “IntechOpen eBooks” This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
January 2021 in “Mastology” This study found that over 80% of women treated with paclitaxel who used a hypothermic glycerin-based hydrogel cap preserved at least 50% of their initial hair volume, suggesting scalp cooling may effectively prevent chemotherapy-induced alopecia.
January 2022 in “Aesthetic Plastic Surgery”
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
March 2005 in “Journal of The American Academy of Dermatology” Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
February 2023 in “Journal of dermatology” This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
33 citations
,
December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
27 citations
,
May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
January 2026 in “Biomaterials”