1 citations
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January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
3 citations
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December 2017 in “Clinical and Experimental Dermatology” Reversible hair loss in a ring pattern on the scalp may be linked to changes in leptin levels in fat tissue.
October 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Stem cell niche exit in C. elegans is influenced by Sh1 cell membrane protrusions.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by affecting hair follicles.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
3 citations
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December 2017 in “Journal of Psychiatric Research” Hair samples can't reliably detect hypercortisolism in anorexia nervosa patients.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
287 citations
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March 1999 in “The Plant Journal” Microtubules help control the direction and stability of root hair growth in Arabidopsis thaliana.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
5 citations
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November 2012 in “Journal of the American Academy of Dermatology” A 3-year-old girl has short anagen syndrome, causing her hair to stay short.
49 citations
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March 1996 in “Experimental Brain Research” 17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
January 2022 in “European journal of anatomy” A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
8 citations
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December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
7 citations
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December 2016 in “British Journal of Dermatology” The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Too much IKZF1 and Ikaros protein may cause alopecia areata.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
July 2025 in “Journal of Investigative Dermatology” Miniaturized hair follicles in androgenetic alopecia show abnormal mitochondrial activity and damage.
14 citations
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December 1991 in “Annals of the New York Academy of Sciences” MYC protooncogenes may be important for hair growth, but more research is needed.
20 citations
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January 2017 in “Genetica” The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
50 citations
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June 1993 in “European journal of biochemistry” Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.