109 citations
,
April 1997 in “Archives of Dermatological Research” Mast cell and nerve fiber interactions in mouse skin change with the hair cycle.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
2 citations
,
June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
9 citations
,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
42 citations
,
August 2017 in “Human Reproduction” Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.
19 citations
,
May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
10 citations
,
November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
14 citations
,
November 2024 in “International Journal of Molecular Sciences” YAP and TAZ proteins control skin cell growth and repair.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
April 2022 in “Microbiology and Immunology” A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
January 2020 in “Proyecto de investigación:” Longer anogenital distance may indicate a higher chance of having polycystic ovary syndrome, and measuring this distance along with hormone levels could improve diagnosis.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
2 citations
,
January 1993 Trichohyalin is a versatile protein involved in hair and skin structure.
40 citations
,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
January 2022 in “Clinical Cases in Dermatology” A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
5 citations
,
September 2022 in “Research Square (Research Square)” CD201+ fascia progenitors are essential for wound healing and could be targeted for treating skin conditions.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
March 2026 in “Journal of Investigative Dermatology”
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
70 citations
,
August 2006 in “Cancer Research” AP-1 controls tumor cell type by affecting key signaling pathways.
14 citations
,
March 2015 in “Stem Cell Research & Therapy” ABCG2 protein marks stem-like skin cells in human epidermis.