19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
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.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
7 citations
,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
7 citations
,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
7 citations
,
September 2017 in “Scientific Reports” Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
7 citations
,
October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
6 citations
,
February 2013 in “Medical Oncology” Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
1 citations
,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
October 2023 in “Journal of pharmaceutical investigation” Finasteride dosages should be adjusted based on CYP3A5 genotype and liver function to avoid side effects.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.