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GlossarySanger sequencing

determines DNA sequence by incorporating chain-terminating nucleotides during replication

Sanger sequencing, also known as chain termination sequencing, is a method used to determine the precise order of nucleotides in a DNA molecule. It involves copying the DNA in a way that incorporates special molecules called dideoxynucleotides, which stop the copying process at specific points, allowing scientists to piece together the sequence by analyzing the resulting fragments. This technique has been fundamental in genetic research and diagnostics.

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Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

4 citations , January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

3 citations , June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

3 citations , February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies

2 citations , August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi

1 citations , April 2024 in “Animal Genetics”

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

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 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 new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter

March 2023 in “JAAD case reports”

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

August 2022 in “Frontiers in genetics”

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

research Identification and characterization of genes for skin and hair disorders

February 2026 in “bonndoc (University of Bonn)”

New gene variants were found for rare skin and hair disorders, improving understanding and treatment.

research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

39 citations , September 2018 in “American Journal of Medical Genetics Part A”

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

7 citations , January 2018 in “Neurodegenerative Diseases”

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family

August 2025 in “BMC Pregnancy and Childbirth”

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Discovery of Differentially Expressed Genes in Cashmere Goat Hair Follicles by RNA Sequencing

research Discovery of differentially expressed genes in cashmere goat (Capra hircus) hair follicles by RNA sequencing

5 citations , January 2016 in “Genetics and Molecular Research”

Researchers found 617 genes that behave differently in cashmere goat hair follicles, which could help understand hair growth.

Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment

13 citations , October 2024 in “Scientific Reports”

Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.

research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

June 2024 in “Research Square (Research Square)”

Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

Fibroblast Heterogeneity and Functions: Insights from Single-Cell Sequencing in Wound Healing, Breast Cancer, Ovarian Cancer, and Melanoma

research Fibroblast heterogeneity and functions: insights from single-cell sequencing in wound healing, breast cancer, ovarian cancer and melanoma

March 2024 in “Frontiers in genetics”

Different types of fibroblasts play specific roles in wound healing and cancer, which could help improve treatments.

Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice

research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice

April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

19 citations , December 2015 in “European Journal of Human Genetics”

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

research Multi-scale spatial mapping of cell populations across anatomical sites in healthy human skin and basal cell carcinoma

1 citations , August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)”

The research created a detailed map of skin cells, showing that certain cells in basal cell carcinoma may come from hair follicles and could help the cancer grow.

research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

18 citations , January 2013 in “PLoS ONE”

HLA-DRB5 and other genes may be linked to alopecia universalis.

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza

8 citations , December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

Mutational Spectrum of EDA, EDAR, EDARADD, and WNT10A Genes in the Largest Cohort of Russian Patients With Hypohidrotic Ectodermal Dysplasia

research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia

February 2026 in “Orphanet Journal of Rare Diseases”

Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.

research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

260 citations , July 2010 in “Cell”

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

research In vivo transcriptional governance of hair follicle stem cells by canonical Wnt regulators

173 citations , January 2014 in “Nature Cell Biology”

Wnt signaling controls whether hair follicle stem cells stay inactive or regenerate hair.

Combinatorial Expression of Cell Cycle Regulators Is More Suitable for Immortalization Than Oncogenic Methods in Dermal Papilla Cells

research Combinatorial expression of cell cycle regulators is more suitable for immortalization than oncogenic methods in dermal papilla cells

5 citations , January 2021 in “iScience”

Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.

research Dissecting the microenvironment around biosynthetic scaffolds in murine skin wound healing

66 citations , May 2021 in “Science Advances”

Different scaffold patterns improve wound healing and immune response in mouse skin, with aligned patterns being particularly effective.