23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
1 citations
,
November 1983 in “The Lancet” Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
21 citations
,
December 1991 in “Annals of the New York Academy of Sciences” Most mouse hair keratin genes are on chromosomes 11 and 15.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
6 citations
,
June 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Humans have ancient DNA from Neanderthals and other lineages in their chromosomes, affecting traits and evolution.
Long-term finasteride use may affect sperm structure and chromosomes.
41 citations
,
January 2022 in “Clinical Immunology” Females are more prone to lupus and arthritis due to X chromosome factors.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
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.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
23 citations
,
March 1958 in “JNCI Journal of the National Cancer Institute” Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
1 citations
,
April 2024 in “Science Advances” Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
11 citations
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May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
1 citations
,
October 2023 in “Animals” Certain DNA regions in alpacas are linked to fiber diameter.
52 citations
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January 2016 in “Sexual Development” Both genetic and hormonal factors are crucial for bird sex differentiation, and disturbances can cause sex reversal.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
3 citations
,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
1 citations
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January 2023 in “Frontiers in genetics” Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
Certain genetic markers can help predict wool production in U.S. sheep.