39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
9 citations
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April 1999 in “Mammalian Genome” Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.
6 citations
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
5 citations
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September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
3 citations
,
March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
8 citations
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December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
2 citations
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February 2024 in “Medicine” A mutation in the IL2RA gene increases the risk of alopecia areata.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
4 citations
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May 2024 in “Genes” KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
20 citations
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June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
56 citations
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April 2019 in “The Plant Journal” Cyclic nucleotide-gated channels are crucial for proper root hair growth and calcium balance in plants.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
24 citations
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October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
2 citations
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April 2023 in “American Journal of Dermatopathology” CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
Genetic differences may influence male pattern hair loss in Russians.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
3 citations
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January 2022 in “Journal of Infection” Some early COVID-19 mutations in patients predicted future common virus mutations.