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A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities

6 citations , 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.

Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak

research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak

7 citations , March 2022 in “Frontiers in Genetics”

The research found specific genes that may cause longer hair in Tianzhu White Yak.

research Genome-Wide Association Study of Fiber Diameter in Alpacas

1 citations , October 2023 in “Animals”

Certain DNA regions in alpacas are linked to fiber diameter.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research Curly : a new hair defect mutation in the SELH/bc mouse strain

January 2009

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters

research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters

16 citations , February 2018 in “BMC Genomics”

Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.

research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs

2 citations , November 2024 in “PLoS ONE”

Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.

research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

9 citations , June 2017 in “American journal of ophthalmology. Case reports”

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

June 2025 in “Molecular Genetics & Genomic Medicine”

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

research No Evidence that 2D:4D is Related to the Number of CAG Repeats in the Androgen Receptor Gene

40 citations , January 2013 in “Frontiers in Endocrinology”

Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.

research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness

51 citations , November 2011 in “British Journal of Dermatology”

A gene called HDAC9 might be a new factor in male-pattern baldness.

research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas

14 citations , December 1998 in “British Journal of Cancer”

Truncated hHb1 keratin may play a role in breast cancer cell transformation.

research Alopecia Areata is associated with MICA and an extended HLA haplotype

1 citations , March 2004 in “Journal of the American Academy of Dermatology”

Certain genes are linked to the risk of developing Alopecia Areata.

research Generating Disulfides in Multicellular Organisms: Emerging Roles for a New Flavoprotein Family

75 citations , March 2007 in “Journal of Biological Chemistry”

QSOX enzymes help form protein bonds in cells, especially in tissues with high secretory activity.

research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

20 citations , May 2013 in “International Journal of Molecular Medicine”

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

23 citations , January 2017 in “BMC Medical Genetics”

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis

April 2017 in “Journal of Investigative Dermatology”

The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.

research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

11 citations , March 2020 in “American Journal of Medical Genetics Part A”

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form

research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

98 citations , June 2008 in “Human mutation”

A genetic change in the EDAR gene causes the unique hair traits found in East Asians.

research Genetic Polymorphisms of the 3'-Untranslated Regions (3'-UTR) of the HSP 70 Gene in Moa Buffalo (Bubalus bubalis)

September 2025 in “Jurnal Penelitian Pendidikan IPA”

Two genetic variations in Moa buffalo help them adapt to heat.

research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality

1 citations , October 2023 in “BMC Genomics”

miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.

research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility

97 citations , March 2002 in “Molecular and cellular biology”

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

research Genetic variation in the ovine KAP22-1 gene and its effect on wool traits in Egyptian sheep

3 citations , August 2022 in “Archives animal breeding/Archiv für Tierzucht”

Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.

Nonsteroidal Inhibitors of Human Type I Steroid 5α-Reductase

research Nonsteroidal inhibitors of human type I steroid 5-.alpha.-reductase

89 citations , February 1993 in “Journal of Medicinal Chemistry”

New compounds called benzoquinolinones may treat conditions linked to excess DHT.

research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

July 2021 in “Advances in laboratory medicine”

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

50 citations , February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

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