30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
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.
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.
29 citations,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
June 2024 in “Computational and Structural Biotechnology Journal” Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
9 citations,
April 2023 in “Frontiers in immunology” New technologies help us better understand how skin microbes affect skin diseases.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
3 citations,
September 2020 in “Journal of developmental and behavioral pediatrics/Journal of developmental & behavioral pediatrics” The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
6 citations,
May 2022 in “Frontiers in Microbiology” Marine microbes could be used in cosmetics for sun protection, skin care, and possibly preventing hair loss.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
1 citations,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
6 citations,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
May 2018 in “Journal of Investigative Dermatology” Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.
August 2024 in “Archives of Dermatological Research” Certain genetic variants and pathways are linked to hair loss.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
5 citations,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
May 2023 in “GSC biological and pharmaceutical sciences” Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
1 citations,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.