11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
22 citations
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April 2017 in “Journal of Investigative Dermatology” Non-coding RNAs are crucial for skin development and health.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
92 citations
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December 2016 in “Scientific Reports” Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
January 2020 in “ScholarWorks (Central Washington University)” NAG-1 may help prevent some metabolic issues related to PCOS.
17 citations
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May 2021 in “Journal of Cell Science” N1-acetylspermidine promotes hair follicle stem cell self-renewal.
CCC1 is essential for ion balance and proper plant cell function.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
1 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Polyamines are important in deciding hair follicle stem cell behavior, affecting hair growth and loss.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
9 citations
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January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
42 citations
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January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
1 citations
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April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
421 citations
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April 2012 in “The New England Journal of Medicine” Alopecia Areata is an autoimmune condition causing hair loss with no cure and treatments that often don't work well.
103 citations
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March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.