4 citations
,
February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
29 citations
,
February 2016 in “International Journal of Dermatology” This study found that patients with lichen planus were significantly more likely to have dyslipidemia, particularly with higher triglyceride levels.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
4 citations
,
January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
23 citations
,
January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
April 2018 in “Journal of Investigative Dermatology” This study found that DC-HIL+ myeloid derived suppressor cells are increased in the blood and skin of patients with cutaneous lupus erythematosus and show immunosuppressive properties.
18 citations
,
October 2009 in “Endocrinology” This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
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.
4 citations
,
August 2006 in “The Journal of Dermatology” This case report describes the first known association of hypertrichosis lanuginosa acquisita with autoimmune hepatitis, expanding the list of conditions linked to this rare disorder.
April 2016 in “Journal of Investigative Dermatology” This study suggests that lithocholic acid may enhance hair regeneration in alopecia by activating vitamin D receptors in human dermal papilla cells.
28 citations
,
January 2012 in “Biological & pharmaceutical bulletin” This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.
June 2022 in “Journal of the Liaquat University of Medical and Health Sciences” This study investigated the relationship between lichen planus and dyslipidemia but did not report any clinical findings.
13 citations
,
June 2006 in “Fertility and Sterility” This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.
3 citations
,
December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
7 citations
,
February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
September 2024 in “Journal of the American Academy of Dermatology” In this case report, a 53-year-old woman with Little-Graham-Piccardi-Lassueur-Syndrome responded well to a treatment regimen of hydroxychloroquine, methotrexate, and other therapies, effectively halting the progression of this rare dermatosis characterized by alopecia and hyperkeratotic eruptions.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
3 citations
,
January 2021 in “Hair transplant forum international” This study found that visual hair density is better correlated with hair count and shaft diameter, leading to the development of the Hair Diameter Index used in planning hair restoration procedures.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
April 2020 in “Journal of the Endocrine Society” This case report details an atypical presentation of Hodgkin's lymphoma in an 87-year-old man, where severe hypercalcemia and mental status changes prompted further investigation and diagnosis.
12 citations
,
January 2010 in “Acta Dermato Venereologica” In this case-control study, female patients with early onset androgenetic alopecia had higher triglycerides, total cholesterol, and LDL-C levels, and lower HDL-C levels compared to females with other skin diseases.
1 citations
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May 2019 in “Journal of The European Academy of Dermatology and Venereology” New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.