October 2022 in “Benha Journal of Applied Sciences” In this case-control study, the researchers found that human beta-defensin 1 concentration was not a significant predictor of alopecia areata susceptibility or severity.
75 citations
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October 2016 in “Genes & Development” This study found that Sonic Hedgehog secreted by hair follicle transit-amplifying cells is essential for dermal adipogenesis and hair follicle growth by acting on adipocyte precursors.
9 citations
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June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
16 citations
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March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
2 citations
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May 2022 in “Journal of trace elements in medicine and biology” This study found that administering lower doses of sodium pentaborate pentahydrate increased hair growth in rats via specific molecular pathways, while a higher dose suppressed these pathways and impaired hair growth.
1 citations
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February 1991 in “Journal of Biological Chemistry” 1 citations
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November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
April 2023 in “Journal of Investigative Dermatology” 3D ultrasound can detect hair follicle changes and disease phases in alopecia areata.
70 citations
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February 2009 in “Biological Trace Element Research”
November 2022 in “Journal of Investigative Dermatology” This study suggests that human dermal papilla cells respond to hypoxia by increasing the expression of HIFs, TGF-β2, and BMP4, which may influence hair cycle regulation.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
86 citations
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May 2002 in “Journal of Investigative Dermatology” This study characterized a new human keratin, hK6irs1, specifically found in the inner root sheath of hair follicles, which suggests its role in the structural integrity and guidance of growing hair shafts.
72 citations
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October 2009 in “The FASEB journal” This study found that thyrotropin-releasing hormone (TRH) acts as a potent stimulator of hair growth in human scalp hair follicles, promoting elongation and prolonging the anagen phase.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
82 citations
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February 1989 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study found that in men with benign prostatic hyperplasia, a 3-month treatment with a long-acting GnRH agonist significantly reduced intraprostatic DHT and 3α-diol levels by about 90% and testosterone by about 75%.
71 citations
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October 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents a novel in vitro assay using human folliculoid microspheres to research hair growth, which may facilitate preclinical testing of hair growth-modulatory agents.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
25 citations
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October 2010 in “Journal of Hepatology” This study presented a case where budesonide was insufficient to maintain remission in autoimmune hepatitis, suggesting it may be less effective than prednisolone and associated with notable steroid side effects.
August 2024 in “Journal of Biomedical Research & Environmental Sciences” This review consolidates existing research showing that lower SHBG levels are significantly associated with adverse reproductive, metabolic, and cardiovascular outcomes, suggesting its importance as a marker in managing various health conditions.
10 citations
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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.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
October 2022 in “Dermatology practical & conceptual” This study found that bipolar disorder is more prevalent in patients with hidradenitis suppurativa than in those with psoriasis or in control groups.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that MPZL3 plays a crucial role in regulating the hair cycle clock in mice, with its absence leading to accelerated hair follicle cycling and suggesting potential therapeutic pathways for alopecia treatment.