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A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research A novel method for visualizing hair lipids at the cell membrane complex: Argon sputter etching/scanning electron microscopy¹

4 citations , January 2006 in “International Journal of Cosmetic Science”

The method shows how hair lipids form specific patterns and their roles in hair structure.

research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations

40 citations , September 2004 in “Biomacromolecules”

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

research Importance of Citrullination on Hair Protein Molecular Assembly During Trichocytic Differentiation

5 citations , September 2013

research Trichothiodystrophy -A Case Report-

March 2003 in “中華皮膚科醫學雜誌”

Trichothiodystrophy causes unusual hair and developmental issues.

research The Effect of Intermediate Treatment Using Natural Polyphenol Cross-linker on Perming Efficiency and Hair Protection

August 2021 in “Han'gug miyong haghoeji/Journal of the Korean society of cosmetology”

Using natural polyphenol cross-linkers like tannic acid and green tea extract in perm treatments improves curling and protects hair.

research Structure optimization of tetrahydropyridoindole-based aldose reductase inhibitors improved their efficacy and selectivity

13 citations , October 2017 in “Bioorganic & Medicinal Chemistry”

Optimizing the structure of a specific compound greatly improved its effectiveness and precision for treating diabetic complications.

research Note on Isocholesterol, Coprosterol and the Classification of the Sterols

1 citations , December 1913 in “Biochemical Journal”

Isocholesterol is a confirmed and recognized sterol.

research Closing the loop with citramalic acid-based chiral polyester: A novel strategy as a game-changer for sustainable materials

September 2025 in “Chemical Engineering Journal”

A new sustainable polyester is tough, recyclable, biodegradable, and aids wound healing, supporting a circular economy.

research In vitro evaluation of changes of hair fibers subjected to oxidation-reductive straighteners associated with dyeing

October 2024 in “UNESP Institutional Repository (São Paulo State University)”

Straightening and dyeing damage hair structure.

research Abstract 2474: The mechanistic role of polyamines in DNA double-strand break repair

July 2017 in “Cancer Research”

Polyamines help repair DNA breaks and may influence cancer development.

research Branched Polymer Architecture for Modulating Interactions in Material-Bio Interface

5 citations , March 2025 in “Tissue Engineering and Regenerative Medicine”

research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse

118 citations , June 1993 in “Journal of Biological Chemistry”

Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.

research Structure and biochemistry of mammalian hard keratin

252 citations , January 1991 in “Electron Microscopy Reviews”

research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity

2 citations , July 2021 in “UNC Libraries”

Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.

research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

5 citations , October 2021 in “American Journal of Medical Genetics Part A”

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

research An Overview on Functional and Structural Properties of Monomeric and Multimeric β-Thymosin in Invertebrates

3 citations , November 2021 in “Protein and Peptide Letters”

β-thymosin in invertebrates is more complex and diverse than in vertebrates.

research Evolutionary Trees of Intermediate Filament Proteins

3 citations , January 1988

research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content

84 citations , June 1970 in “Journal of Investigative Dermatology”

research Refatting rate of human hair lipids after exposure to selenium disulphide detergents

2 citations , February 1983 in “International Journal of Cosmetic Science”

Selenium disulphide detergents increase hair oiliness by boosting some lipids and reducing fatty acids.

research Synergistic Effect of Co-Delivering Ciprofloxacin and Tetracycline Hydrochloride for Promoted Wound Healing by Utilizing Coaxial PCL/Gelatin Nanofiber Membrane

67 citations , February 2022 in “International Journal of Molecular Sciences”

The nanofiber membranes effectively promote wound healing and have strong antibacterial properties.

research Template‐directed self‐assembly and growth of insulin amyloid fibrils

36 citations , March 2005 in “Biotechnology and Bioengineering”

A new method speeds up insulin amyloid fibril growth, useful for studying diseases.

research Skin Stearoyl-CoA Desaturase Genes

1 citations , January 2013

Synthesis of 11α-Hydroxyprogesterone Haptens

research Synthesis of 11α-hydroxyprogesterone hartens

7 citations , June 1989 in “Steroids”

Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.

research Morphological analyses in fragility of pili torti with Björnstad syndrome

4 citations , November 2016 in “The Journal of Dermatology”

Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.

research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity

227 citations , January 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.

research Changing the shape of hair with keratin peptides

47 citations , January 2017 in “RSC Advances”

Keratin peptides can change hair shape gently without harsh chemicals.

research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids

26 citations , March 2006 in “Endocrine, metabolic & immune disorders. Drug targets”

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

research ‘Relaxers’ damage hair: Evidence from amino acid analysis

January 2011 in “Yearbook of Dermatology and Dermatologic Surgery”

Hair relaxers are linked to reduced cystine levels and potential hair damage.

research Metabolic pathway of Cis-UCA upon Ultraviolet B (UVB) exposure using ¹H Nuclear Magnetic Resonance (NMR) spectroscopy, Molecular Docking and cell viability of human keratinocytes (HaCaT) cell lines

February 2026 in “UiTM Institutional Repositories (Universiti Teknologi MARA)”

Cis-UCA can form new compounds without enzymes, and sulphide donors reduce its UVB-induced toxicity in skin cells.

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