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research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

8 citations , December 2016 in “Hormone Research in Paediatrics”

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

42 citations , October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the KRT85 gene cause hair and nail problems.

research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.

69 citations , May 2002 in “Journal of Investigative Dermatology”

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

25 Hydroxyvitamin D 1 Alpha-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis

research 25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis

140 citations , April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.

Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency

research Congenital adrenal hyperplasia

16 citations , September 2008 in “Dermatologic Therapy”

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

September 2025 in “JCEM Case Reports”

Consider rare forms of CAH for accurate diagnosis and treatment.

research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

88 citations , March 2004 in “Journal of Investigative Dermatology”

research Association between TLR1 polymorphisms and alopecia areata

20 citations , April 2014 in “Autoimmunity”

A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.

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 Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations , November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

research Localization, Age- and Site-Dependent Expression, and Regulation of 11β-Hydroxysteroid Dehydrogenase Type 1 in Skin

119 citations , August 2010 in “Journal of Investigative Dermatology”

Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.

Investigation of Paraoxonase Enzyme Polymorphism in Patients with Alopecia Areata

research Investigation of Paraoxanase Enzyme Polymorphism in Patients with Alopecia Areata

March 2016 in “West Indian medical journal”

There is no significant link between alopecia areata and the PON1 enzyme polymorphisms studied.

research Novel missense mutation in the EDA gene in a family affected by oligodontia

12 citations , January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie”

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives

10 citations , September 2019 in “Experimental Eye Research”

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

research Increased CRHR1 expression on monocytes from patients with AA enables a pro‐inflammatory response to corticotrophin‐releasing hormone

3 citations , October 2024 in “Experimental Dermatology”

Higher CRHR1 levels in AA patients lead to increased inflammation.

research Acquired immunogenicity of DNA after modification with malondialdehyde in patients with alopecia areata

10 citations , March 2014 in “Scandinavian journal of clinical and laboratory investigation”

Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.

research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia

20 citations , July 2017 in “Scientific Reports”

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women

March 2021 in “Medico-Legal Update”

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

December 2024 in “Journal of Clinical Research in Pediatric Endocrinology”

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS

January 2008

Mutations in specific genes cause different types of ectodermal dysplasias.

research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia

25 citations , August 2014 in “Endocrinology”

Researchers created a mouse model of a type of rickets that does not cause hair loss.

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.

research Lack of association between Vitamin D receptor FokI polymorphism and alopecia areata.

10 citations , September 2004 in “PubMed”

Vitamin D receptor FokI gene variation is not linked to alopecia areata.

research Congenital Adrenal Hyperplasia

August 2022 in “IntechOpen eBooks”

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

14 citations , January 2013 in “Hormone and Metabolic Research”

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

11 citations , April 2012 in “Journal of Investigative Dermatology”

A specific mutation in PA-PLA1α causes abnormal hair growth.

research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population

15 citations , August 2013 in “Gene”

The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.

research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis

1 citations , September 2020 in “Journal of dermatology”

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

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 Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele

February 2017 in “Cancer Causes & Control”

Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.

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