Results 161 to 170 of about 174,602 (303)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini   +9 more
wiley   +1 more source

Modular and Stereoselective Synthesis of Cyclobutane β‐Amino Alcohols

open access: yesAngewandte Chemie, EarlyView.
Late‐stage functionalization and photoisomerization of 1,2‐azaborine leads to a general strategy for the synthesis of diversely substituted cyclobutane β‐amino alcohols. The relative stereochemistry of the resulting products is unambiguously defined by the stereospecific and stereoselective nature of the photoisomerization‐hydrogenation‐oxidation ...
Xinyu Yang   +3 more
wiley   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

Cysteine Thioaldehydes: Photolytic Generation, Reactivity, and Biological Implications

open access: yesAngewandte Chemie, EarlyView.
Photolysis of cysteine phenacylsulfides bearing non‐conjugating electron‐withdrawing substituents leads to high conversions into cysteine thioaldehydes through a Norrish type‐II pathway. This methodology enabled the study of the aqueous reactivity of these important biosynthetic intermediates, which, depending on peptide sequence, pH and buffer ...
Ardra Karthika   +9 more
wiley   +1 more source

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