May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
32 citations
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August 1984 in “Lancet” Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
5 citations
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June 2024 in “Phenomics”
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
2 citations
,
January 2010 RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
39 citations
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January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
June 2025 in “V F Snegirev Archives of Obstetrics and Gynecology” A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
96 citations
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September 1996 in “PubMed” Desmocollin 1 and 3 have distinct patterns in human tissues, with Dsc1 in specific skin and hair layers and Dsc3 in various epithelial layers.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
August 2016 in “PolyPublie (École Polytechnique de Montréal)” Doxorubicin causes heart damage, so early detection and monitoring are important during chemotherapy.
April 2019 in “Journal of the Endocrine Society” A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
16 citations
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
21 citations
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January 2008 in “Indian Journal of Dermatology Venereology and Leprology”
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
42 citations
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September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
36 citations
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November 2000 in “Journal of the American Academy of Dermatology” A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
5 citations
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January 2021 in “Frontiers in Cell and Developmental Biology” Inhibiting Zyxin may help treat androgenetic alopecia by promoting hair growth.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
25 citations
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January 1983 in “Archives of dermatology” The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
1 citations
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February 2023 in “Frontiers in Endocrinology” Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.