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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 MBTPS1i>‐related disorder due to compound heterozygous variants in MBTPS1i> 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 L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
8 citations , June 1981 in “Clinica Chimica Acta”

research An investigation into the action of transglutaminase on human hair
January 1995 in “Journal of the Society of Cosmetic Chemists”

Transglutaminase does not modify human hair.

research The Proximal Promoter of the Human Transglutaminase 3 Gene
105 citations , February 1996 in “Journal of biological chemistry/The Journal of biological chemistry”

The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.

research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)”

PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.

research Elucidating the roles of three β-glucuronosyltransferases (GLCATs) acting on arabinogalactan-proteins using a CRISPR-Cas9 multiplexing approach in Arabidopsis
28 citations , May 2020 in “BMC plant biology”

The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.

research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
12 citations , February 2023 in “Applied and Environmental Microbiology”

Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.

research DataSheet1.zip
December 2021

GPC1 is important for hair growth by helping blood vessels form around hair follicles.

research Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
October 2021

CCC1 is essential for pH balance and normal cell function in plants.

research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivoi>
3 citations , January 2022 in “Burns & Trauma”

CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.

research Glycogen Phosphorylase Inhibitor Promotes Hair Growth via Protecting from Oxidative-Stress and Regulating Glycogen Breakdown in Human Hair follicles
August 2024 in “Biomolecules & Therapeutics”

A new compound, HTPI, promotes hair growth by protecting cells from damage and regulating energy use.

research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
September 2021

CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.

research Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
18 citations , June 2017 in “Proceedings of the National Academy of Sciences of the United States of America”

A gene called Gk5 controls lipid production in the skin and affects hair growth.

research Roles of GasderminA3 in Catagen–Telogen Transition During Hair Cycling
25 citations , April 2015 in “Journal of Investigative Dermatology”

GasderminA3 is important for normal hair cycle transitions by controlling Wnt signaling.

research A phosphoinositide-mediated switch of GET pathway receptor dimerization in Arabidopsisi>
October 2025 in “Proceedings of the National Academy of Sciences”

Phospholipids help plant proteins move by regulating receptor interactions.

research Molecular modeling and structural characterization of a high glycine–tyrosine hair keratin associated protein
16 citations , January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics”

The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.

research Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
63 citations , May 2015 in “PloS one”

GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.

research Intramembrane Proteolysis of Astrotactins
8 citations , January 2017 in “Journal of Biological Chemistry”

Astrotactin-2 is cleaved in a specific way that helps understand its maturation.

research TGF‐β and HSP70 profiles during transformation of yak hair follicles from the anagen to catagen stage
10 citations , February 2019 in “Journal of cellular physiology”

TGF-β2 helps yak hair follicles enter the regression phase, while HSP70 tries to prevent it.

research A Sensitive Assay for the Enzyme Activity in Hair Follicles and Epidermis that Catalyses the Peptidyl-Arginine-Citrulline Post-translational Modification
3 citations , April 2015 in “Current problems in dermatology”

A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.

research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology”

RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.

research Skin l‐tryptophan‐2,3‐dioxygenase and rat hair growth
33 citations , August 1993 in “FEBS Letters”

A new enzyme in rats may help regulate hair growth.

research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
November 2025 in “Journal of Investigative Dermatology”

Genetic variants in specific genes cause central centrifugal cicatricial alopecia.

research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
September 2016 in “Journal of Dermatological Science”

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter
215 citations , November 2000 in “Journal of Investigative Dermatology”

The system allows precise control of gene expression in mouse skin, useful for studying skin biology.

research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
22 citations , August 2020 in “Cells”

TGM3 is important for skin and hair structure and may help diagnose cancer.

research A Short Peptide GPIGS Promotes Proliferation of Hair Bulb Keratinocytes and Accelerates Hair Regrowth in Mice
3 citations , January 2005 in “Biological & Pharmaceutical Bulletin”

The peptide GPIGS helps hair cells grow and speeds up hair regrowth in mice.

research Interleukin-1β-Induced Inhibition of Hair Growth In Vitro Is Mediated by Cyclic AMP
33 citations , January 1997 in “Journal of Investigative Dermatology”

research In Vitroi> and In Vivoi> Models for the Development of Hair Growth Materials By Regulating the βi>-Catenin Signaling Pathways
February 2024 in “Journal of medicinal food”

The research found a way to develop hair growth materials by targeting a specific signaling pathway.

research Multiple cyclic nucleotide‐gated channels coordinate calcium oscillations and polar growth of root hairs
56 citations , April 2019 in “The Plant Journal”

Cyclic nucleotide-gated channels are crucial for proper root hair growth and calcium balance in plants.

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research A case of MBTPS1i>‐related disorder due to compound heterozygous variants in MBTPS1i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome

research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy

research An investigation into the action of transglutaminase on human hair

research The Proximal Promoter of the Human Transglutaminase 3 Gene

research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression

research Elucidating the roles of three β-glucuronosyltransferases (GLCATs) acting on arabinogalactan-proteins using a CRISPR-Cas9 multiplexing approach in Arabidopsis

research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design

research DataSheet1.zip

research Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)

research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivoi>

research Glycogen Phosphorylase Inhibitor Promotes Hair Growth via Protecting from Oxidative-Stress and Regulating Glycogen Breakdown in Human Hair follicles

research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)

research Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5

research Roles of GasderminA3 in Catagen–Telogen Transition During Hair Cycling

research A phosphoinositide-mediated switch of GET pathway receptor dimerization in Arabidopsisi>

research Molecular modeling and structural characterization of a high glycine–tyrosine hair keratin associated protein

research Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis

research Intramembrane Proteolysis of Astrotactins

research TGF‐β and HSP70 profiles during transformation of yak hair follicles from the anagen to catagen stage

research A Sensitive Assay for the Enzyme Activity in Hair Follicles and Epidermis that Catalyses the Peptidyl-Arginine-Citrulline Post-translational Modification

research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus

research Skin l‐tryptophan‐2,3‐dioxygenase and rat hair growth

research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia

research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes

research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter

research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer

research A Short Peptide GPIGS Promotes Proliferation of Hair Bulb Keratinocytes and Accelerates Hair Regrowth in Mice

research Interleukin-1β-Induced Inhibition of Hair Growth In Vitro Is Mediated by Cyclic AMP

research In Vitroi> and In Vivoi> Models for the Development of Hair Growth Materials By Regulating the βi>-Catenin Signaling Pathways

research Multiple cyclic nucleotide‐gated channels coordinate calcium oscillations and polar growth of root hairs