9 citations
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December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
September 2023 in “Journal of International Medical Research” Metformin increases FSH levels in PCOS, and KISS1 gene variations may influence PCOS development.
The FGF5 gene variant causes long hair in Akitas, and genetic testing is advised to manage coat length and welfare.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
26 citations
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August 2016 in “ACS Applied Materials & Interfaces” A boronic acid copolymer quickly forms cell clusters, useful for tissue and tumor modeling.
12 citations
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August 2011 in “European Journal of Endocrinology” Anti-Müllerian hormone is a specific marker for ovarian issues in women with conditions like PCOS.
73 citations
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April 2013 in “Stem cells” LGR5 helps maintain corneal cell characteristics and prevents unwanted changes by controlling specific cell signaling pathways.
20 citations
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July 2011 in “PLoS ONE” HPV-150 and HPV-151 are rare skin viruses linked to warts and some skin cancers.
A KRT32 gene variant causes loose anagen hair syndrome.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
MITF and WNT3A are key in Dun Mongolian horse pigmentation.
7 citations
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July 2014 in “Reproductive Biomedicine Online” The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
48 citations
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May 2015 in “PLOS ONE” DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
13 citations
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April 2024 in “International Journal of Molecular Sciences” Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.
8 citations
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October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
April 2019 in “Journal of Investigative Dermatology” The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
383 citations
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February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
2 citations
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November 1996 in “PubMed” Most people have similar hair protein patterns, but a rare variant was found in two women.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
1 citations
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April 2017 in “Journal of Investigative Dermatology” SM04554 may increase hair growth as a topical treatment for androgenetic alopecia.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
42 citations
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June 2002 in “Molecular and Cellular Biology” Keratinocyte gene expression is controlled by multiple modules with specific binding sites.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
25 citations
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January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.