79 citations
,
August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
1 citations
,
March 2014 in “Journal of Innovative Optical Health Sciences” Hair structure worsens as tumors grow in mice.
75 citations
,
March 2014 in “Journal of Investigative Dermatology” Aging mice have slower hair regeneration due to changes in signal balance, but the environment, not stem cell loss, controls this, suggesting treatments could focus on environmental factors.
6 citations
,
January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
NuMA-microtubule interactions are vital for proper skin structure formation and function.
February 2023 in “Cosmoderma” Loose anagen hair syndrome causes easily shed hair but usually improves with time.
18 citations
,
August 2011 in “Medical Hypotheses” Physical inactivity is a primary cause of many human illnesses.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
7 citations
,
January 2013 in “Pediatrics in review” The document says menstruation is important for women's health, discusses menstrual disorders, and suggests personalized treatment options.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
11 citations
,
August 2024 in “Nature Communications” Quiescent cells have increased mitochondrial activity and ECM gene expression, but reduced glycolysis.
4 citations
,
October 2018 in “Experimental Dermatology” Dermoscopy shows that diffuse alopecia areata progresses through specific hair growth stages.
74 citations
,
June 2018 in “Cell death and disease” Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
2 citations
,
March 2023 in “Frontiers in Medicine” Proper cleansing can resolve dermatosis neglecta, which may indicate underlying psychiatric issues.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
218 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
Lack of certain cells causes abnormal nipple development and nursing failure.
June 2018 in “British Journal of Dermatology” Hair cells lose their nucleus and mitochondria in a specific order as they fill with keratin, which could help develop treatments for hair issues.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.