8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
223 citations
,
January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
69 citations
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May 1997 in “Veterinary Pathology” The angora mouse mutation causes long hair and hair defects due to a gene deletion.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
61 citations
,
January 2017 in “Human Reproduction Open” The review recommends hormone replacement therapy for women with premature ovarian insufficiency to manage symptoms and protect health, with specific approaches for different groups.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
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.
Finasteride may increase stroke risk in people with clotting tendencies.
October 2025 in “Dermatology and Therapy” Recognizing and treating related skin conditions can improve atopic dermatitis management.
November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
17 citations
,
March 2012 in “The Journal of Pathology” In vivo lineage labelling is better than in vitro methods for identifying and understanding stem cells.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
41 citations
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November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
July 2004 in “British Journal of Dermatology” The document concludes that accurate diagnosis and treatment are crucial in dermatology, and it presents various findings on skin conditions and treatments.
January 2000 in “BioScience” The document concludes that understanding hair biology is key to treating hair disorders, with gene therapy showing potential as a future treatment.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
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.
3 citations
,
September 2020 Dyclonine can effectively reduce skin issues by inhibiting the TRPV3 channel.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.