July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
28 citations,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
3 citations,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
1 citations,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
9 citations,
May 2021 in “Immunological Reviews” Different types of fibroblasts play various roles in kidney repair and aging, and may affect chronic kidney disease outcomes.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
130 citations,
November 2017 in “Frontiers in Immunology” The conclusion is that Treg-targeted therapies have potential, but more knowledge of Treg biology is needed for effective treatments, including for cancer.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
4 citations,
November 2016 in “Pediatric Clinics of North America” The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
467 citations,
October 2014 in “European Journal of Endocrinology” The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
3 citations,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
2 citations,
March 2021 in “Molecular Immunology” Dermal macrophages might help regrow hair.
September 2023 in “Reproductive health of woman” PCOS is common, affects fertility, and requires personalized treatment to manage symptoms and health risks.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
March 1996 in “Journal of The American Academy of Dermatology” The book is a useful guide for learning about chemical peels, with practical information for all skill levels.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
1540 citations,
October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
13 citations,
April 2022 in “Frontiers in oncology” Melanoma development can be linked to the breakdown of skin's melanin-producing units.
184 citations,
February 2015 in “EBioMedicine” A patient with Alopecia Areata had complete hair regrowth after using the drug baricitinib.
181 citations,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
132 citations,
August 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” TGF-β signaling is crucial for stem cell maintenance, differentiation, and has implications for cancer treatment.
124 citations,
February 2018 in “Nature Reviews Genetics” Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.