January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
38 citations
,
April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
288 citations
,
January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
33 citations
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January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
4 citations
,
March 2018 in “Animal biotechnology” The LAMTOR3 gene is involved in cashmere goat hair growth and is affected by certain treatments and other genes.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
11 citations
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July 2015 in “Gene” DHT affects bone growth by altering gene activity in osteoblasts, potentially complicating steroid use.
November 2017 in “British Journal of Dermatology” Genes controlling hair growth and immune response are disrupted in male pattern baldness.
The KRTAP36-2 gene in sheep affects wool yield.
April 2026 in “Human Genome Variation” This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.
14 citations
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October 2000 in “Genomics” Rat dermal papilla cells have unique genes crucial for hair growth.
6 citations
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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.
7 citations
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July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
June 2011 in “Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)” Estrogens and androgens are crucial for male fertility.
6 citations
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March 2020 in “Anais Brasileiros de Dermatologia” CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
38 citations
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February 1989 in “Journal of Investigative Dermatology” 174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
2 citations
,
October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
32 citations
,
August 1999 in “Journal of Investigative Dermatology” Early onset hair loss linked to genetics and androgen levels.
1 citations
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October 2020 in “Research Square (Research Square)” A genetic variant in goats is linked to cashmere growth.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.