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Site of Beige and Leaden Pigment Gene Expression Determined by Recombinant Embryonic Skin Grafts and Aggregation Mouse Chimaeras Employing Sash Homozygotes

research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (W^sh) homozygotes

7 citations , October 1985 in “Genetics Research”

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10

29 citations , January 2021 in “G3 Genes Genomes Genetics”

A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.

research Complex X chromosome rearrangement associated with multiorgan autoimmunity

8 citations , July 2015 in “Molecular cytogenetics”

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

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.

research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

32 citations , November 2020 in “UNC Libraries”

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma

October 2016

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

30 citations , January 2013 in “Human Mutation”

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

49 citations , June 2019 in “eLife”

Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.

research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11

49 citations , October 1989 in “Genomics”

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

12 citations , January 2000 in “Biochemical and Biophysical Research Communications”

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

research Development of Heritable Melanoma in Transgenic Mice

75 citations , March 1998 in “Journal of Investigative Dermatology”

The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.

research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma

February 2017

Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.

research FOXN1 Duplication and Congenital Hypertrichosis

3 citations , March 2017 in “Pediatric Dermatology”

FOXN1 duplication can cause excessive hair growth.

research Chromosomal Localization of Mouse Hair Keratin Genes^a

21 citations , December 1991 in “Annals of the New York Academy of Sciences”

Most mouse hair keratin genes are on chromosomes 11 and 15.

research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

March 2025 in “American Journal of Medical Genetics Part A”

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations , June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

research Skin regional specification and higher-order HoxC regulation

3 citations , March 2025 in “Science Advances”

A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.

research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene

19 citations , May 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

1 citations , August 2019 in “Journal of pediatric & adolescent gynecology”

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

51 citations , December 2006 in “Mammalian Genome”

research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

9 citations , May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research ATP-dependent chromatin remodeling during mammalian development

182 citations , August 2016 in “Development”

ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.

research Genetic Defects of Female Sexual Differentiation

November 2016 in “Elsevier eBooks”

Genetic mutations can affect female sexual development, requiring personalized medical care.

research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype

December 2020 in “Research Square (Research Square)”

A genetic change in the FGF5 gene affects hair growth in cashmere goats.

research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia

7 citations , June 2011 in “Movement Disorders”

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (W^sh) homozygotes

research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10

research Complex X chromosome rearrangement associated with multiorgan autoimmunity

research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma

research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11

research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

research Development of Heritable Melanoma in Transgenic Mice

research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma

research FOXN1 Duplication and Congenital Hypertrichosis

research Chromosomal Localization of Mouse Hair Keratin Genes^a

research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Skin regional specification and higher-order HoxC regulation

research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene

research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

research ATP-dependent chromatin remodeling during mammalian development

research Genetic Defects of Female Sexual Differentiation

research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma

research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes

research Isochromosome Mosaic Turner Syndrome: A Case Report

research Crosslinking Between Trichocyte Keratins and Keratin Associated Proteins

research De novo assembly and annotation of Asiatic lion (Panthera leo persica) genome

research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype

research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia