37 citations
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June 1996 in “Journal of cellular physiology” Retinoic acid, glucocorticoids, and IGF1 increase IGFBP-3 production in human dermal papilla cells, affecting hair growth.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
April 2019 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles may boost hair growth by enhancing energy production and blood vessel formation.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
May 2023 in “Research Square (Research Square)” Blocking the HEDGEHOG-GLI1 pathway can reduce keloid growth and may be a potential treatment.
January 2026 in “Figshare” ASLNC168501 may help treat hair loss by boosting hair follicle stem cell activity.
128 citations
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March 1996 in “Journal of Investigative Dermatology” 136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
10 citations
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April 2020 in “PloS one” Lack of Crif1 in hair follicle stem cells slows down hair growth in mice.
April 2023 in “Journal of Investigative Dermatology” IL-9/IL-9R signaling can negatively affect human hair growth and may be a target for treating hair loss conditions.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
1 citations
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May 2023 in “PubMed” A certain type of skin cell, marked by EGFR, produces a lot of IGF1 and helps hair follicles grow back faster.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
33 citations
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
April 2014 in “The FASEB Journal” Iron deficiency in mothers causes hair loss in their baby mice.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
6 citations
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March 2016 in “British Journal of Dermatology” Low IGF-1 and high HDL cholesterol levels are linked to more hair loss in middle-aged women.
13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
4 citations
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October 2023 in “Children” This study examines the complex clinical and genetic nature of Focal Dermal Hypoplasia (Goltz syndrome) in 8 female patients aged 6 months to 16 years, highlighting significant cutaneous, cranial, and skeletal abnormalities. The research identifies alopecia, papillomas, striated skin pigmentations, and limb malformations such as ectrodactyly. Advanced imaging revealed massive demineralization of the cranium and various skeletal anomalies, with some patients showing heterozygous mutations in the PORCN gene. The study underscores the importance of comprehensive diagnostic processes and early diagnosis to manage the syndrome's complex manifestations effectively, noting potential severe complications if cranio-cervical pathologies are not addressed.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.