198 citations
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June 2013 in “Molecular psychiatry” Schizophrenia patients' stem cells show abnormal neuron development and mitochondrial issues.
7 citations
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October 2024 in “Cells” Autophagy is essential for proper skin cell development and function.
November 2007 in “Data Archiving and Networked Services (DANS)” Androgen receptors play a key role in male development and prostate cancer, with treatments targeting androgen action.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
32 citations
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November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
108 citations
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July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
16 citations
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October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
32 citations
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November 2006 in “Veterinary dermatology” Congenital alopecia in domestic animals is rare and involves abnormal hair follicle development, needing better understanding and classification.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
11 citations
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January 2017 in “Biochemical and biophysical research communications” 1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
171 citations
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October 1990 in “Alcoholism/Alcoholism, clinical and experimental research” The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
45 citations
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May 2003 in “Journal of Cell Science” α3β1-integrin is crucial for maintaining normal hair follicle shape and function but not needed for the development of the surrounding skin.
111 citations
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June 2002 in “The EMBO Journal” Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
49 citations
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September 2016 in “Genes Brain & Behavior” Zfp462 deficiency in mice causes anxiety-like behaviors and excessive self-grooming.
3 citations
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June 2025 in “Drug Design Development and Therapy” Targeting glycolysis may help treat PCOS by improving insulin sensitivity and ovarian function.
6 citations
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October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
1 citations
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September 2024 in “Frontiers in Cell and Developmental Biology” Pigs are a good model for studying human hair growth and disorders.
85 citations
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June 2008 in “Annals of the New York Academy of Sciences” PCOS starts in adolescence with hormonal issues, leading to adult health problems, and early treatment is crucial.
April 2017 in “Journal of dermatological science” Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
30 citations
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June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
7 citations
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November 2014 in “Histochemistry and Cell Biology” The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
519 citations
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February 2020 in “Inflammation and Regeneration” RANKL is crucial for bone health, immune function, and other body processes.