April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
232 citations
,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
53 citations
,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
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.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
10 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
6 citations
,
August 2023 in “BMC genomics” The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
6 citations
,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Alopecia areata involves complex immune and genetic factors, with potential treatment targets identified, but more research is needed.
5 citations
,
February 2022 in “Seminars in cell & developmental biology” Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
5 citations
,
September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
3 citations
,
January 2021 in “Journal of The American Academy of Dermatology” Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
1 citations
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May 2023 in “Journal of molecular evolution” Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
1 citations
,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
1 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
May 2022 in “Gastroenterology” Targeting NETs may help reduce fibrosis in Crohn's disease.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.