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

January 1993

The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.

research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse

12 citations , July 2004 in “Molecular genetics and genomics”

A new mouse mutation causes skin and hair defects due to a gene change.

research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa

2 citations , September 2017 in “Journal of Investigative Dermatology”

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells

8 citations , June 2001 in “Journal of Biological Chemistry”

A truncated protein linked to breast cancer may change cell adhesion.

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

99 citations , March 2013 in “Journal of Investigative Dermatology”

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».

January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)”

The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.

research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

A specific gene mutation causes a severe skin disorder in a family.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic

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.

research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature

1 citations , June 2025 in “Pigment Cell & Melanoma Research”

SASH1 gene mutations are linked to various inherited skin pigmentation disorders.

research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells

2 citations , June 2012 in “Journal of Dermatological Science”

The gene HDC is important for the development of hair follicles in newborn mice.

research A 40-Year-Old Woman With Facial Papules and Flank Pain

2 citations , May 2006 in “Archives of Pathology & Laboratory Medicine”

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

4 citations , December 2021 in “Journal of clinical laboratory analysis”

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

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.

research What’s new in Birt–Hogg–Dubé syndrome?

December 2012 in “Expert review of dermatology”

New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

1 citations , March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia

August 2024 in “American Journal of Medical Genetics Part A”

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.

research Disease causing homozygous variants in the human hairless gene

7 citations , December 2015 in “International Journal of Dermatology”

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS

January 2008

Mutations in specific genes cause different types of ectodermal dysplasias.

research Hypotrichosis with juvenile macular dystrophy

4 citations , January 2018 in “International Journal of Trichology”

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse

July 2009 in “TSpace”

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy

26 citations , August 2009 in “Journal of Pediatric Gastroenterology and Nutrition”

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

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.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1

17 citations , August 2012 in “Journal of Medical Genetics”

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

67 citations , August 2004 in “Endocrinology”

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

research The Case | Bilateral kidney tumors and lung cysts

January 2013 in “Kidney international”

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

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