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research De novo mutation in the mitochondrial tRNA^Leu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

19 citations , February 2001 in “Journal of paediatrics and child health”

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

research Trichothiodystrophy: an ultrastructural study of the hair follicle

42 citations , September 1985 in “British Journal of Dermatology”

Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.

research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype

August 2025

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21

37 citations , January 1993 in “Journal of Investigative Dermatology”

research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene

45 citations , January 2010 in “Journal of Veterinary Medical Science”

A gene mutation causes curly hair and hair loss in rats.

research Novel KRT83 and KRT86 mutations associated with monilethrix

18 citations , January 2015 in “Experimental Dermatology”

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

65 citations , September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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

51 citations , December 2006 in “Mammalian Genome”

research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant

April 2026 in “Human Genome Variation”

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

research A New Case of Isolated Trichothiodystrophy

26 citations , January 1993 in “Dermatology”

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.

research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71

75 citations , October 2010 in “Mammalian genome”

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

11 citations , December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

October 2023 in “Psychiatry research. Case reports”

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

research Discreet monilethrix: De novo mutation on the example of polish families

1 citations , January 2017 in “International Journal of Trichology”

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

16 citations , January 2010 in “American Journal of Neuroradiology”

Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.

research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

21 citations , January 2006 in “Hormone Research in Paediatrics”

A mutation in the VDR gene affects hair cycling without needing ligand binding.

research Rippled‐pattern trichomatricoma

29 citations , February 1989 in “Journal of Cutaneous Pathology”

A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

21 citations , April 2014 in “PLoS ONE”

A rare gene variant causes hair and nail issues in a family.

research Tritiated Thymidine: Effect of Decomposition by Self-Radiolysis on Specificity as a Tracer for DNA Synthesis

54 citations , July 1967 in “Science”

Decomposed tritiated thymidine is less accurate for DNA tracing, and hair changes can indicate malnutrition.

research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

8 citations , June 2016 in “Journal of Investigative Dermatology”

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

research Trichorrhexis nodosa. Clinical and investigative studies

47 citations , November 1966 in “Archives of Dermatology”

Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.

research 5 alpha-reductase-2 gene mutations in the Dominican Republic.

53 citations , May 1996 in “The Journal of Clinical Endocrinology & Metabolism”

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

2 citations , September 2022

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix

10 citations , January 2003 in “Dermatology”

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

research The mouse frizzy (fr) and rat ‘hairless’ (fr^CR) mutations are natural variants of protease serine S1 family member 8 (Prss8)

28 citations , February 2010 in “Experimental Dermatology”

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

5 citations , December 2014 in “Molecular cytogenetics”

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

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