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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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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.

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 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 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 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 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 32-month-old Caucasian female was identified with a heterozygous de novo nonsense mutation in the ODC1 gene, leading to a new pediatric disorder characterized by developmental delay, alopecia, and other symptoms such as macrosomia and macrocephaly. This mutation resulted in elevated ODC protein and polyamine levels in red blood cells. The case confirmed similar symptoms observed in a transgenic ODC1 mouse model. The mutation was identified through whole-exome sequencing and confirmed by Sanger sequencing. The patient might benefit from treatment with α-difluoromethylornithine, an FDA-approved drug.

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: A Case Report and Literature Review

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.

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 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.

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.

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.

research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

2 citations, July 2022 in “Journal of the Endocrine Society”

Some women with PCOS have rare genetic variants linked to the condition.

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.

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 Provides 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.

research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations, November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.

research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes

36 citations, March 2019 in “European Journal of Human Genetics”

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

26 citations, December 2011 in “Journal of Investigative Dermatology”

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis

18 citations, January 2020 in “Acta dermato-venereologica”

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene

10 citations, March 2015 in “Journal of dermatology”

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2

January 2023 in “Revista Paulista de Pediatria”

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

research Evolving Approaches to Profiling the Microbiome in Skin Disease

9 citations, April 2023 in “Frontiers in immunology”

New technologies help us better understand how skin microbes affect skin diseases.

research The Metabolic Syndrome-Associated Small G Protein ARL15 Plays a Role in Adipocyte Differentiation and Adiponectin Secretion

23 citations, December 2017 in “Scientific Reports”

ARL15 is important for fat cell development and the release of the hormone adiponectin.

The Circular RNA CircCOL1A1 Functions as a miR-149-5p Sponge to Regulate the Formation of Superior-Quality Brush Hair via the CMTM3/AR Axis

research The Circular RNA CircCOL1A1 Functions as a miR-149-5p Sponge to Regulate the Formation of Superior-Quality Brush Hair via the CMTM3/AR Axis

3 citations, February 2022 in “Frontiers in cell and developmental biology”

A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.

Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization

research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization

March 2024 in “Research Square (Research Square)”

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

6 citations, June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

3 citations, May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.