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Patched-Associated Tumors: Modifier Genes and Pathogenesis

research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese

February 2022

The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.

research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region

8 citations , March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.

research Gene expression profiling of intestinal regeneration in the sea cucumber

106 citations , June 2009 in “BMC Genomics”

Sea cucumbers have unique genes that help them regenerate their intestines.

2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation

research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation

86 citations , August 2011 in “Toxicological sciences”

TCDD speeds up skin barrier formation by increasing certain gene expressions.

Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert

research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.

62 citations , January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

43 citations , September 2001 in “Annals of Neurology”

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome

2 citations , February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.

Cloning, Computational Analysis and Expression Profiling of Steroid 5 Alpha-Reductase 1 (SRD5A1) Gene During Reproductive Phases and Ovatide Stimulation in Endangered Catfish, Clarias Magur

research Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur

November 2023 in “Scientific reports”

The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.

Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

May 2025 in “Frontiers in Genetics”

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor

17 citations , October 2006 in “Molecular and Cellular Endocrinology”

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

43 citations , April 2010 in “Clinical genetics”

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

research Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1 ‐mediated P53 ubiquitination

March 2026 in “Animal Models and Experimental Medicine”

This study investigates the role of Gorab gene deficiency in skin aging, using a dermal Gorab knockout mouse model. The research reveals that Gorab mutations lead to accelerated skin aging by increasing levels of aging-related proteins (P53, P21, P16) and reducing extracellular matrix (ECM) components like collagen and fibronectin. The mechanism involves impaired ubiquitination and accumulation of P53 protein, likely regulated by the E3 ligase RCHY1, along with increased HDAC2 levels and reduced histone acetylation. These changes disrupt ECM expression, highlighting a pathway for accelerated skin aging. The findings enhance understanding of Gorab's role in skin aging and suggest potential preventive strategies.

research The chemokine SDF-1/CXCL12 regulates the migration of melanocyte progenitors in mouse hair follicles

57 citations , April 2009 in “Differentiation”

SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.

research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation

74 citations , September 2006 in “Cell Cycle”

The HR protein's role as a repressor is essential for controlling hair growth.

research Characterization of a gene encoding a cysteine-rich keratin associated protein synthesized late in rabbit hair follicle differentiation

26 citations , March 1995 in “Differentiation”

A rabbit gene important for hair development was identified and detailed.

research This Month in the Journal

July 2005 in “The American Journal of Human Genetics”

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles

24 citations , January 2018 in “Development”

Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

6 citations , August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics”

New genetic mutations linked to rare skin disorders were found in three newborns.

research CBL1‐CIPK26‐mediated phosphorylation enhances activity of the NADPH oxidase RBOHC, but is dispensable for root hair growth

32 citations , July 2018 in “FEBS letters”

A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.

research Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype

75 citations , April 2000 in “Developmental Dynamics”

Whn is essential for hair growth, and its malfunction causes hair loss.

research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

8 citations , March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

research Organization and Expression of Hair Follicle Genes.

48 citations , July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”

Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.

research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes

35 citations , August 2010 in “The American journal of pathology”

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

research The Vitamin D Receptor Is Required for Activation of cWnt and Hedgehog Signaling in Keratinocytes

56 citations , September 2014 in “Molecular Endocrinology”

Vitamin D receptor is essential for hair growth signaling.

Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

4 citations , January 2011 in “Annals of Dermatology”

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

research Scraggly, a new hair loss mutation on mouse Chromosome 19

14 citations , September 1999 in “Mammalian genome”

The scraggly mutation causes hair loss and skin defects in mice.

research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13

92 citations , February 2005 in “Journal of Investigative Dermatology”

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

20 citations , December 1999 in “Journal of Investigative Dermatology”

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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