November 2022 in “Journal of Investigative Dermatology” Aging in one type of stem cell can cause aging-like changes in various organs.
16 citations
,
January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
4 citations
,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
21 citations
,
January 2008 in “Indian Journal of Dermatology Venereology and Leprology” 198 citations
,
June 2013 in “Molecular psychiatry” Schizophrenia patients' stem cells show abnormal neuron development and mitochondrial issues.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
28 citations
,
August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
40 citations
,
July 2016 in “Pediatrics in review” Puberty involves complex hormonal changes, varies by gender and ethnicity, and requires careful monitoring for abnormalities.
11 citations
,
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.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
5 citations
,
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Aging skin shows thinner layers, fewer hair follicles, and new biomarkers like increased space between cells and smaller sebaceous glands.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
January 2016 in “UNESP Institutional Repository (São Paulo State University)” Melasma results from changes in the skin's pigment and structure, not just pigment cell growth.
A new genetic mutation was found causing hair and eye issues in a boy.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
372 citations
,
December 2004 in “Nature Genetics”
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Aged individuals heal wounds less effectively due to specific immune cell issues.
28 citations
,
September 2013 in “Biogerontology” 46 citations
,
October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
37 citations
,
January 2022 in “Frontiers in Genetics” Aging reduces dermal sheath cells, affecting youthful skin appearance.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
April 2023 in “Journal of Investigative Dermatology” Aging changes skin cells, leading to different DNA methylation and gene activity, affecting cell metabolism and aging signs.